<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1659-0201</journal-id>
<journal-title><![CDATA[Población y Salud en Mesoamérica]]></journal-title>
<abbrev-journal-title><![CDATA[PSM]]></abbrev-journal-title>
<issn>1659-0201</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Costa Rica. Centro Centroamericano de Población]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1659-02012022000100419</article-id>
<article-id pub-id-type="doi">10.15517/psm.v0i19.48067</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Estudios genético-moleculares de miotonías hereditarias en la población costarricense]]></article-title>
<article-title xml:lang="en"><![CDATA[Molecular-genetic studies of inherited myotonic conditions in Costa Rica]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vásquez Cerdas]]></surname>
<given-names><![CDATA[Melissa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vindas-Smith]]></surname>
<given-names><![CDATA[Rebeca]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cuenca Berger]]></surname>
<given-names><![CDATA[Patricia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Del Valle Carazo]]></surname>
<given-names><![CDATA[Gerardo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Morales Montero]]></surname>
<given-names><![CDATA[Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Costa Rica  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Costa Rica  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de Costa Rica  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Laboratorio de Neurofisiologia  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Universidad de Costa Rica  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Costa Rica</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<volume>19</volume>
<numero>2</numero>
<fpage>419</fpage>
<lpage>440</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_arttext&amp;pid=S1659-02012022000100419&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_abstract&amp;pid=S1659-02012022000100419&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_pdf&amp;pid=S1659-02012022000100419&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen Introducción: las miotonías hereditarias son enfermedades del músculo esquelético, clínica y genéticamente heterogéneas, caracterizadas por presentar miotonía (retraso en la relajación muscular). Se dividen en distróficas y no distróficas, las cuales son causadas por mutaciones en el ADN. Objetivo: describir los hallazgos más relevantes sobre algunas miotonías hereditarias en Costa Rica. Metodología: se realizaron estudios genético-moleculares en individuos afectados con una condición miotónica y sus familiares en riesgo genético. Resultados: la mutación de la distrofia miotónica tipo 1 (DM1) se encontró en 246 individuos. Nuestros estudios contribuyeron a mejorar la correlación entre el tamaño de la mutación y la edad de inicio de los síntomas, además, se demostró el papel modificador de algunos otros factores genéticos en la DM1. De las familias de 18 pacientes negativos para la mutación DM1, en ocho se logró identificar una mutación en genes que proporcionan la información para formar canales iónicos. Los análisis de función ayudaron a mostrar que esas mutaciones ocasionan cambios estructurales y estos modifican las propiedades de los canales, provocando una pérdida o ganancia de su función. Conclusiones: este trabajo permitió la clasificación clínica correcta de muchos pacientes, así como explorar las bases genéticas y moleculares de la variabilidad clínica de estas enfermedades, mediante la búsqueda de factores modificadores de la DM1 y los estudios funcionales de mutaciones causantes de canalopatías hereditarias, aspecto clave para asesorar a pacientes y familias y abordar la enfermedad de la forma más adecuada.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Introduction: Hereditary myotonias are a clinically and genetically heterogeneous group of skeletal muscle diseases characterized by myotonia (delayed muscle relaxation). Clinically, they are classified as dystrophic and non-dystrophic myotonias, which are caused by mutations in the DNA. Aim: Describe the most relevant findings on some hereditary myotonias in Costa Rica. Methodology: Genetic-molecular studies of these diseases were carried out in individuals affected with a myotonic condition and their relatives at genetic risk. Results: The mutation for myotonic dystrophy type 1 (DM1) was found in 246 individuals. We have seen an improvement in the correlations between the size of the mutation and the age of onset of symptoms, in addition we have demonstrated the modifying role of some genetic factors in DM1. Of 18 patients who were negative for the mutation causing DM1, in eight families, a mutation was identified in genes, that provide the instructions for producing proteins called ion channels. Analyzes at the functional level helped to show that these mutations cause structural changes that modify the properties of these channels, causing a loss or gain of channel function. Conclusions: Our studies have allowed a correct clinical classification for many patients with these pathologies, in addition to explore the genetic and molecular basis of the clinical variability of these diseases, by searching for DM1 modifying factors and functional studies of new mutations that cause hereditary channelopathies, which is key to provide genetic counseling to patients and families and treating the disease in the most appropriate way.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[análisis funcionales]]></kwd>
<kwd lng="es"><![CDATA[diagnóstico molecular]]></kwd>
<kwd lng="es"><![CDATA[miotonías]]></kwd>
<kwd lng="es"><![CDATA[mutación]]></kwd>
<kwd lng="en"><![CDATA[Functional analyses]]></kwd>
<kwd lng="en"><![CDATA[Molecular diagnosis]]></kwd>
<kwd lng="en"><![CDATA[Mutation]]></kwd>
<kwd lng="en"><![CDATA[Myotonias]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ashizawa]]></surname>
<given-names><![CDATA[T.]]></given-names>
</name>
<name>
<surname><![CDATA[Dunne]]></surname>
<given-names><![CDATA[C.J.]]></given-names>
</name>
<name>
<surname><![CDATA[Dubel]]></surname>
<given-names><![CDATA[J.R.]]></given-names>
</name>
<name>
<surname><![CDATA[Perryman]]></surname>
<given-names><![CDATA[M.B.]]></given-names>
</name>
<name>
<surname><![CDATA[Epstein]]></surname>
<given-names><![CDATA[H.F.]]></given-names>
</name>
<name>
<surname><![CDATA[Boerwinkle]]></surname>
<given-names><![CDATA[E.]]></given-names>
</name>
<name>
<surname><![CDATA[Hejtmancik]]></surname>
<given-names><![CDATA[J.F.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Anticipation In Myotonic Dystrophy .1. Statistical Verification Based On Clinical and Haplotype Findings]]></article-title>
<source><![CDATA[Neurology]]></source>
<year>1992</year>
<volume>42</volume>
</nlm-citation>
</ref>
<ref id="B2">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Brenes]]></surname>
<given-names><![CDATA[O.]]></given-names>
</name>
<name>
<surname><![CDATA[Barbieri]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Vásquez]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Vindas-Smith]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Roig]]></surname>
<given-names><![CDATA[J.]]></given-names>
</name>
<name>
<surname><![CDATA[Romero]]></surname>
<given-names><![CDATA[A.]]></given-names>
</name>
<name>
<surname><![CDATA[Morales]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Functional and structural characterization of ClC-1 andNav1.4 channels resulting from CLCN1 and SCN4A mutations identified alone and coexisting in myotonic patients]]></article-title>
<source><![CDATA[Cells]]></source>
<year>2021</year>
<volume>10</volume>
<numero>2</numero>
<issue>2</issue>
</nlm-citation>
</ref>
<ref id="B3">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Brook]]></surname>
<given-names><![CDATA[J.D.]]></given-names>
</name>
<name>
<surname><![CDATA[McCurrach]]></surname>
<given-names><![CDATA[M.E.]]></given-names>
</name>
<name>
<surname><![CDATA[Harley]]></surname>
<given-names><![CDATA[H.G.]]></given-names>
</name>
<name>
<surname><![CDATA[Buckler]]></surname>
<given-names><![CDATA[A.J.]]></given-names>
</name>
<name>
<surname><![CDATA[Church]]></surname>
<given-names><![CDATA[D.]]></given-names>
</name>
<name>
<surname><![CDATA[Aburatani]]></surname>
<given-names><![CDATA[H.]]></given-names>
</name>
<name>
<surname><![CDATA[Housman]]></surname>
<given-names><![CDATA[D.E.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the-3 end of a transcript encoding a protein kinase family member]]></article-title>
<source><![CDATA[Cell]]></source>
<year>1992</year>
<volume>68</volume>
<page-range>799-808</page-range></nlm-citation>
</ref>
<ref id="B4">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cannon]]></surname>
<given-names><![CDATA[S.C.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Channelopathies of skeletal muscle excitability]]></article-title>
<source><![CDATA[Compr Physiol]]></source>
<year>2015</year>
<volume>5</volume>
<numero>2</numero>
<issue>2</issue>
</nlm-citation>
</ref>
<ref id="B5">
<nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cannon]]></surname>
<given-names><![CDATA[S.C.]]></given-names>
</name>
</person-group>
<source><![CDATA[Sodium Channelopathies of Skeletal Muscle. In: Chahine M, editor. Voltage-gated Sodium Channels: Structure, Function and Channelopathies. Handbook of Experimental Pharmacology]]></source>
<year>2017</year>
<page-range>309-30</page-range><publisher-name><![CDATA[Springer, Cham]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B6">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Corrales]]></surname>
<given-names><![CDATA[E.]]></given-names>
</name>
<name>
<surname><![CDATA[Vásquez]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[B.]]></given-names>
</name>
<name>
<surname><![CDATA[Santamaría-Ulloa]]></surname>
<given-names><![CDATA[C.]]></given-names>
</name>
<name>
<surname><![CDATA[Cuenca]]></surname>
<given-names><![CDATA[P.]]></given-names>
</name>
<name>
<surname><![CDATA[Krahe]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Morales]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1]]></article-title>
<source><![CDATA[PLoS ONE]]></source>
<year>2019</year>
<volume>14</volume>
<numero>5</numero>
<issue>5</issue>
</nlm-citation>
</ref>
<ref id="B7">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Dupre]]></surname>
<given-names><![CDATA[N.]]></given-names>
</name>
<name>
<surname><![CDATA[Chrestian]]></surname>
<given-names><![CDATA[N.]]></given-names>
</name>
<name>
<surname><![CDATA[Bouchard]]></surname>
<given-names><![CDATA[J.P.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-canadians]]></article-title>
<source><![CDATA[NeuromusculDisord]]></source>
<year>2009</year>
<volume>19</volume>
<page-range>330-4</page-range></nlm-citation>
</ref>
<ref id="B8">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Estevez]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Schroeder]]></surname>
<given-names><![CDATA[B.]]></given-names>
</name>
<name>
<surname><![CDATA[Accardi]]></surname>
<given-names><![CDATA[A.]]></given-names>
</name>
<name>
<surname><![CDATA[Jentsch]]></surname>
<given-names><![CDATA[T.]]></given-names>
</name>
<name>
<surname><![CDATA[Pusch]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1]]></article-title>
<source><![CDATA[Neuron]]></source>
<year>2003</year>
<volume>38</volume>
<page-range>47-59</page-range></nlm-citation>
</ref>
<ref id="B9">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gomes-Pereira]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Bidichandani]]></surname>
<given-names><![CDATA[S.I.]]></given-names>
</name>
<name>
<surname><![CDATA[Monckton]]></surname>
<given-names><![CDATA[D.G.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Analysis of unstable triplet repeats using small-pool polymerase chain reaction]]></article-title>
<source><![CDATA[Methods Mol Biol]]></source>
<year>2004</year>
<volume>277</volume>
<page-range>61-76</page-range></nlm-citation>
</ref>
<ref id="B10">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Harley]]></surname>
<given-names><![CDATA[H.G.]]></given-names>
</name>
<name>
<surname><![CDATA[Rundle]]></surname>
<given-names><![CDATA[S.A.]]></given-names>
</name>
<name>
<surname><![CDATA[MacMillan]]></surname>
<given-names><![CDATA[J.C.]]></given-names>
</name>
<name>
<surname><![CDATA[Myring]]></surname>
<given-names><![CDATA[J.]]></given-names>
</name>
<name>
<surname><![CDATA[Brook]]></surname>
<given-names><![CDATA[J.D.]]></given-names>
</name>
<name>
<surname><![CDATA[Crow]]></surname>
<given-names><![CDATA[S.]]></given-names>
</name>
<name>
<surname><![CDATA[Harper]]></surname>
<given-names><![CDATA[P,S.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>1993</year>
<volume>52</volume>
<page-range>1164-74</page-range></nlm-citation>
</ref>
<ref id="B11">
<nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Harper]]></surname>
<given-names><![CDATA[P.S.]]></given-names>
</name>
</person-group>
<source><![CDATA[Myotonic Dystrophy]]></source>
<year>1989</year>
<edition>2nd</edition>
<publisher-loc><![CDATA[London ]]></publisher-loc>
<publisher-name><![CDATA[WB Saunders Company]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B12">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Heatwole]]></surname>
<given-names><![CDATA[C.]]></given-names>
</name>
<name>
<surname><![CDATA[Moxley]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The nondystrophic myotonias]]></article-title>
<source><![CDATA[Neurotherapeutics]]></source>
<year>2007</year>
<volume>4,</volume>
</nlm-citation>
</ref>
<ref id="B13">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hecht]]></surname>
<given-names><![CDATA[B.K.]]></given-names>
</name>
<name>
<surname><![CDATA[Donnelly]]></surname>
<given-names><![CDATA[A.]]></given-names>
</name>
<name>
<surname><![CDATA[Gedeon]]></surname>
<given-names><![CDATA[A.K.]]></given-names>
</name>
<name>
<surname><![CDATA[Byard]]></surname>
<given-names><![CDATA[R.W.]]></given-names>
</name>
<name>
<surname><![CDATA[Haan]]></surname>
<given-names><![CDATA[E.A.]]></given-names>
</name>
<name>
<surname><![CDATA[Mulley]]></surname>
<given-names><![CDATA[J.G.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Direct molecular diagnosis of the myotonic dystrophy]]></article-title>
<source><![CDATA[Clin Genet]]></source>
<year>1993</year>
<volume>43</volume>
</nlm-citation>
</ref>
<ref id="B14">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Horga]]></surname>
<given-names><![CDATA[A.]]></given-names>
</name>
<name>
<surname><![CDATA[Raja]]></surname>
<given-names><![CDATA[R.D.L.]]></given-names>
</name>
<name>
<surname><![CDATA[Matthews]]></surname>
<given-names><![CDATA[E.]]></given-names>
</name>
<name>
<surname><![CDATA[Sud]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Fialho]]></surname>
<given-names><![CDATA[D.]]></given-names>
</name>
<name>
<surname><![CDATA[Durran]]></surname>
<given-names><![CDATA[S.]]></given-names>
</name>
<name>
<surname><![CDATA[Hanna]]></surname>
<given-names><![CDATA[M.G.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prevalence study of genetically defined skeletal muscle channelopathies in England]]></article-title>
<source><![CDATA[Neurology]]></source>
<year>2013</year>
<volume>80</volume>
</nlm-citation>
</ref>
<ref id="B15">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Koch]]></surname>
<given-names><![CDATA[M.C.]]></given-names>
</name>
<name>
<surname><![CDATA[Steinmeyer]]></surname>
<given-names><![CDATA[K.]]></given-names>
</name>
<name>
<surname><![CDATA[Lorenz]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Ricker]]></surname>
<given-names><![CDATA[K.]]></given-names>
</name>
<name>
<surname><![CDATA[Wolf]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
<name>
<surname><![CDATA[Otto]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Jentsch]]></surname>
<given-names><![CDATA[T.J.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The skeletal muscle chloride channel in dominant and recessive human myotonia]]></article-title>
<source><![CDATA[Science]]></source>
<year>1992</year>
<volume>257</volume>
<page-range>797-800</page-range></nlm-citation>
</ref>
<ref id="B16">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Koch]]></surname>
<given-names><![CDATA[M.C.]]></given-names>
</name>
<name>
<surname><![CDATA[Ricker]]></surname>
<given-names><![CDATA[K.]]></given-names>
</name>
<name>
<surname><![CDATA[Otto]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Wolf]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
<name>
<surname><![CDATA[Zoll]]></surname>
<given-names><![CDATA[B.]]></given-names>
</name>
<name>
<surname><![CDATA[Lorenz]]></surname>
<given-names><![CDATA[C.]]></given-names>
</name>
<name>
<surname><![CDATA[Jentsch]]></surname>
<given-names><![CDATA[T.J.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker)]]></article-title>
<source><![CDATA[Journal of Medical Genetics]]></source>
<year>1993</year>
<volume>30</volume>
<page-range>914-7</page-range></nlm-citation>
</ref>
<ref id="B17">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lavedan]]></surname>
<given-names><![CDATA[C.]]></given-names>
</name>
<name>
<surname><![CDATA[Hofmann-Radvanyi]]></surname>
<given-names><![CDATA[H.]]></given-names>
</name>
<name>
<surname><![CDATA[Shelbourne]]></surname>
<given-names><![CDATA[P.]]></given-names>
</name>
<name>
<surname><![CDATA[Rabes]]></surname>
<given-names><![CDATA[J.P.]]></given-names>
</name>
<name>
<surname><![CDATA[Duros]]></surname>
<given-names><![CDATA[C.]]></given-names>
</name>
<name>
<surname><![CDATA[Savoy]]></surname>
<given-names><![CDATA[D.]]></given-names>
</name>
<name>
<surname><![CDATA[Junien]]></surname>
<given-names><![CDATA[C.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Myotonic dystrophy: size and sex dependent dynamics of CTG meiotic instability, and somatic mosaicism]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>1993</year>
<volume>52</volume>
</nlm-citation>
</ref>
<ref id="B18">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lehmann-Horn]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
<name>
<surname><![CDATA[Mailänder]]></surname>
<given-names><![CDATA[V.]]></given-names>
</name>
<name>
<surname><![CDATA[Heine]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[George]]></surname>
<given-names><![CDATA[A.L.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Myotonia levior is a chloride channel disorder]]></article-title>
<source><![CDATA[Hum Mol Genet]]></source>
<year>1995</year>
<volume>4</volume>
<numero>8</numero>
<issue>8</issue>
<page-range>1397-402</page-range></nlm-citation>
</ref>
<ref id="B19">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lehmann-Horn]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
<name>
<surname><![CDATA[Jurkat-Rott]]></surname>
<given-names><![CDATA[K.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Voltage-gated ion channel and hereditary disease]]></article-title>
<source><![CDATA[Physiol Rev]]></source>
<year>1999</year>
<volume>79</volume>
</nlm-citation>
</ref>
<ref id="B20">
<nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lehmann-Horn]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Ruedel]]></surname>
<given-names><![CDATA[K.]]></given-names>
</name>
<name>
<surname><![CDATA[Jurkat-Rot]]></surname>
<given-names><![CDATA[t K.]]></given-names>
</name>
</person-group>
<source><![CDATA[Nondystrophic myotonias and periodic paralysis. In: Engel AG, Franzini-Armstrong C, editors. Myology]]></source>
<year>2004</year>
<edition>3rd</edition>
<publisher-loc><![CDATA[New York ]]></publisher-loc>
<publisher-name><![CDATA[McGraw-Hill]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B21">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Liquori]]></surname>
<given-names><![CDATA[C.L.]]></given-names>
</name>
<name>
<surname><![CDATA[Ricker]]></surname>
<given-names><![CDATA[K.]]></given-names>
</name>
<name>
<surname><![CDATA[Moseley]]></surname>
<given-names><![CDATA[M.L.]]></given-names>
</name>
<name>
<surname><![CDATA[Jacobsen]]></surname>
<given-names><![CDATA[J.F.]]></given-names>
</name>
<name>
<surname><![CDATA[Kress]]></surname>
<given-names><![CDATA[W.]]></given-names>
</name>
<name>
<surname><![CDATA[Naylor]]></surname>
<given-names><![CDATA[S.L.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9]]></article-title>
<source><![CDATA[Science]]></source>
<year>2001</year>
<volume>293</volume>
</nlm-citation>
</ref>
<ref id="B22">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lorenz]]></surname>
<given-names><![CDATA[C.]]></given-names>
</name>
<name>
<surname><![CDATA[Meyer-Kleine]]></surname>
<given-names><![CDATA[C.]]></given-names>
</name>
<name>
<surname><![CDATA[Steinmeyer]]></surname>
<given-names><![CDATA[K.]]></given-names>
</name>
<name>
<surname><![CDATA[Koch]]></surname>
<given-names><![CDATA[M.C.]]></given-names>
</name>
<name>
<surname><![CDATA[Jentsch]]></surname>
<given-names><![CDATA[T.J.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia]]></article-title>
<source><![CDATA[Human Molecular Genetics]]></source>
<year>1994</year>
<volume>3</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>941-6</page-range></nlm-citation>
</ref>
<ref id="B23">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Monckton]]></surname>
<given-names><![CDATA[D.G.]]></given-names>
</name>
<name>
<surname><![CDATA[Wong]]></surname>
<given-names><![CDATA[L.J.]]></given-names>
</name>
<name>
<surname><![CDATA[Ashizawa]]></surname>
<given-names><![CDATA[T.]]></given-names>
</name>
<name>
<surname><![CDATA[Caskey]]></surname>
<given-names><![CDATA[C.T.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses]]></article-title>
<source><![CDATA[Hum Mol Genet]]></source>
<year>1995</year>
<volume>4</volume>
<page-range>1-8</page-range></nlm-citation>
</ref>
<ref id="B24">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Morales]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
<name>
<surname><![CDATA[Cuenca]]></surname>
<given-names><![CDATA[P.]]></given-names>
</name>
<name>
<surname><![CDATA[Brian]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Sittenfeld]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Valle]]></surname>
<given-names><![CDATA[G.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Diagnóstico molecular de la distrofia miotónica en Costa Rica]]></article-title>
<source><![CDATA[AMC]]></source>
<year>2001</year>
<volume>43</volume>
</nlm-citation>
</ref>
<ref id="B25">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Morales]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
<name>
<surname><![CDATA[Cuenca]]></surname>
<given-names><![CDATA[P.]]></given-names>
</name>
<name>
<surname><![CDATA[del Valle]]></surname>
<given-names><![CDATA[G.]]></given-names>
</name>
<name>
<surname><![CDATA[Brian]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Sittenfeld]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Montoya]]></surname>
<given-names><![CDATA[O.]]></given-names>
</name>
<name>
<surname><![CDATA[Keith]]></surname>
<given-names><![CDATA[J.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Miotonía congénita: caracterización clínica de una familia costarricense afectada por la enfermedad de Thomsen]]></article-title>
<source><![CDATA[Neuroeje]]></source>
<year>2003</year>
<volume>17</volume>
<page-range>82-6</page-range></nlm-citation>
</ref>
<ref id="B26">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Morales]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
<name>
<surname><![CDATA[Cuenca]]></surname>
<given-names><![CDATA[P.]]></given-names>
</name>
<name>
<surname><![CDATA[del Valle]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Vásquez]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Brian]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Sittenfeld]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Ashizawa]]></surname>
<given-names><![CDATA[T.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene]]></article-title>
<source><![CDATA[Rev Biol Trop]]></source>
<year>2008</year>
<volume>56</volume>
<page-range>1-11</page-range></nlm-citation>
</ref>
<ref id="B27">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Morales]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
<name>
<surname><![CDATA[Couto]]></surname>
<given-names><![CDATA[J.]]></given-names>
</name>
<name>
<surname><![CDATA[Highman]]></surname>
<given-names><![CDATA[C.]]></given-names>
</name>
<name>
<surname><![CDATA[Hogg]]></surname>
<given-names><![CDATA[G.]]></given-names>
</name>
<name>
<surname><![CDATA[Cuenca]]></surname>
<given-names><![CDATA[P.]]></given-names>
</name>
<name>
<surname><![CDATA[Braida]]></surname>
<given-names><![CDATA[C.]]></given-names>
</name>
<name>
<surname><![CDATA[Monckton]]></surname>
<given-names><![CDATA[D.G.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity]]></article-title>
<source><![CDATA[Hum Mol Genet]]></source>
<year>2012</year>
<volume>21</volume>
<numero>16</numero>
<issue>16</issue>
</nlm-citation>
</ref>
<ref id="B28">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Morales]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
<name>
<surname><![CDATA[Vásquez]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Santamaría]]></surname>
<given-names><![CDATA[C.]]></given-names>
</name>
<name>
<surname><![CDATA[Cuenca]]></surname>
<given-names><![CDATA[P.]]></given-names>
</name>
<name>
<surname><![CDATA[Corrales]]></surname>
<given-names><![CDATA[E.]]></given-names>
</name>
<name>
<surname><![CDATA[Monckton]]></surname>
<given-names><![CDATA[D.G.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients]]></article-title>
<source><![CDATA[DNA rep]]></source>
<year>2016</year>
<volume>40</volume>
<page-range>57-66</page-range></nlm-citation>
</ref>
<ref id="B29">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Morales]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
<name>
<surname><![CDATA[Vásquez]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Corrales]]></surname>
<given-names><![CDATA[E.]]></given-names>
</name>
<name>
<surname><![CDATA[Vindas-Smith]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Santamaría-Ulloa]]></surname>
<given-names><![CDATA[C.]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[B.]]></given-names>
</name>
<name>
<surname><![CDATA[Monckton]]></surname>
<given-names><![CDATA[D.G.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset]]></article-title>
<source><![CDATA[Human Mol Genet]]></source>
<year>2020</year>
<volume>29</volume>
<numero>15</numero>
<issue>15</issue>
<page-range>2496-507</page-range></nlm-citation>
</ref>
<ref id="B30">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Morales]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
<name>
<surname><![CDATA[Push]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies]]></article-title>
<source><![CDATA[Front Neurol]]></source>
<year>2020</year>
<volume>10</volume>
</nlm-citation>
</ref>
<ref id="B31">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Orita]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Iwahana]]></surname>
<given-names><![CDATA[H.]]></given-names>
</name>
<name>
<surname><![CDATA[Kanazawa]]></surname>
<given-names><![CDATA[H.]]></given-names>
</name>
<name>
<surname><![CDATA[Hayashi]]></surname>
<given-names><![CDATA[K.]]></given-names>
</name>
<name>
<surname><![CDATA[Sekiya]]></surname>
<given-names><![CDATA[T.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms]]></article-title>
<source><![CDATA[Proc Natl Acad Sci USA]]></source>
<year>1989</year>
<volume>86</volume>
<numero>8</numero>
<issue>8</issue>
</nlm-citation>
</ref>
<ref id="B32">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Platt]]></surname>
<given-names><![CDATA[D.]]></given-names>
</name>
<name>
<surname><![CDATA[Griggs]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias]]></article-title>
<source><![CDATA[Curr Opin Neurol]]></source>
<year>2009</year>
<volume>22</volume>
</nlm-citation>
</ref>
<ref id="B33">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ptacek]]></surname>
<given-names><![CDATA[L.J]]></given-names>
</name>
<name>
<surname><![CDATA[Trimmer]]></surname>
<given-names><![CDATA[J.S.]]></given-names>
</name>
<name>
<surname><![CDATA[Agnew]]></surname>
<given-names><![CDATA[W.S.]]></given-names>
</name>
<name>
<surname><![CDATA[Roberts]]></surname>
<given-names><![CDATA[J.W.]]></given-names>
</name>
<name>
<surname><![CDATA[Petajan]]></surname>
<given-names><![CDATA[J.H.]]></given-names>
</name>
<name>
<surname><![CDATA[Leppert]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>1991</year>
<volume>49</volume>
</nlm-citation>
</ref>
<ref id="B34">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ptacek]]></surname>
<given-names><![CDATA[L.J.]]></given-names>
</name>
<name>
<surname><![CDATA[Tawil]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Griggs]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Meola]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[McManis]]></surname>
<given-names><![CDATA[P.]]></given-names>
</name>
<name>
<surname><![CDATA[Barohn]]></surname>
<given-names><![CDATA[R.J.]]></given-names>
</name>
<name>
<surname><![CDATA[Leppert]]></surname>
<given-names><![CDATA[M.F.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis]]></article-title>
<source><![CDATA[Neurology]]></source>
<year>1994</year>
<volume>44</volume>
</nlm-citation>
</ref>
<ref id="B35">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Raja Rayan]]></surname>
<given-names><![CDATA[D.L.]]></given-names>
</name>
<name>
<surname><![CDATA[Haworth]]></surname>
<given-names><![CDATA[A.]]></given-names>
</name>
<name>
<surname><![CDATA[Sud]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Matthews]]></surname>
<given-names><![CDATA[E.]]></given-names>
</name>
<name>
<surname><![CDATA[Fialho]]></surname>
<given-names><![CDATA[D.]]></given-names>
</name>
<name>
<surname><![CDATA[Burge]]></surname>
<given-names><![CDATA[J.]]></given-names>
</name>
<name>
<surname><![CDATA[M.G.]]></surname>
<given-names><![CDATA[Hanna]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A new explanation for recessive myotonia congenital. Exon deletions and duplications in CLCN1]]></article-title>
<source><![CDATA[Neurology]]></source>
<year>2012</year>
<volume>78</volume>
</nlm-citation>
</ref>
<ref id="B36">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Redman]]></surname>
<given-names><![CDATA[J.B.]]></given-names>
</name>
<name>
<surname><![CDATA[Fenwick]]></surname>
<given-names><![CDATA[R.G.]]></given-names>
</name>
<name>
<surname><![CDATA[Fu]]></surname>
<given-names><![CDATA[Y.H.]]></given-names>
</name>
<name>
<surname><![CDATA[Pizzuti]]></surname>
<given-names><![CDATA[A.]]></given-names>
</name>
<name>
<surname><![CDATA[Caskey]]></surname>
<given-names><![CDATA[C.T.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring]]></article-title>
<source><![CDATA[JAMA]]></source>
<year>1993</year>
<volume>269</volume>
</nlm-citation>
</ref>
<ref id="B37">
<nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sambrook]]></surname>
<given-names><![CDATA[J.]]></given-names>
</name>
<name>
<surname><![CDATA[Russel]]></surname>
<given-names><![CDATA[l.D.W.]]></given-names>
</name>
</person-group>
<source><![CDATA[Molecular Cloning: a laboratory manual]]></source>
<year>2001</year>
<publisher-loc><![CDATA[New York ]]></publisher-loc>
<publisher-name><![CDATA[Cold Spring Harbor Laboratory Press.]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B38">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Shelbourne]]></surname>
<given-names><![CDATA[P.]]></given-names>
</name>
<name>
<surname><![CDATA[Davies]]></surname>
<given-names><![CDATA[J.]]></given-names>
</name>
<name>
<surname><![CDATA[Buxton]]></surname>
<given-names><![CDATA[J.]]></given-names>
</name>
<name>
<surname><![CDATA[Anvret]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Blennow]]></surname>
<given-names><![CDATA[E.]]></given-names>
</name>
<name>
<surname><![CDATA[Bonduelle]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Johnson]]></surname>
<given-names><![CDATA[K.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>1993</year>
<volume>328</volume>
<numero>7</numero>
<issue>7</issue>
</nlm-citation>
</ref>
<ref id="B39">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Stunnenberg]]></surname>
<given-names><![CDATA[B.C.]]></given-names>
</name>
<name>
<surname><![CDATA[LoRusso]]></surname>
<given-names><![CDATA[S.]]></given-names>
</name>
<name>
<surname><![CDATA[Arnold]]></surname>
<given-names><![CDATA[W.D.]]></given-names>
</name>
<name>
<surname><![CDATA[Barohn]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Cannon]]></surname>
<given-names><![CDATA[S.C.]]></given-names>
</name>
<name>
<surname><![CDATA[Fontaine]]></surname>
<given-names><![CDATA[B.]]></given-names>
</name>
<name>
<surname><![CDATA[Statland]]></surname>
<given-names><![CDATA[J.M.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Guidelines on clinical presentation and management of nondystrophic myotonias]]></article-title>
<source><![CDATA[Muscle Nerve]]></source>
<year>2020</year>
<volume>62</volume>
<page-range>430-44</page-range></nlm-citation>
</ref>
<ref id="B40">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Vindas-Smith]]></surname>
<given-names><![CDATA[R.]]></given-names>
</name>
<name>
<surname><![CDATA[Fiore]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Vásquez]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
<name>
<surname><![CDATA[Cuenca]]></surname>
<given-names><![CDATA[P.]]></given-names>
</name>
<name>
<surname><![CDATA[Del Valle]]></surname>
<given-names><![CDATA[G.]]></given-names>
</name>
<name>
<surname><![CDATA[Lagostena]]></surname>
<given-names><![CDATA[L.]]></given-names>
</name>
<name>
<surname><![CDATA[Morales]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[.Identification and functional characterization of CLCN1 mutations found in nondystrophic myotonia patients]]></article-title>
<source><![CDATA[Hum Mutat]]></source>
<year>2016</year>
<volume>37</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>74-83</page-range></nlm-citation>
</ref>
<ref id="B41">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wong]]></surname>
<given-names><![CDATA[L.J.]]></given-names>
</name>
<name>
<surname><![CDATA[Ashizawa]]></surname>
<given-names><![CDATA[T.]]></given-names>
</name>
<name>
<surname><![CDATA[Monckton]]></surname>
<given-names><![CDATA[D.G.]]></given-names>
</name>
<name>
<surname><![CDATA[Caskey]]></surname>
<given-names><![CDATA[C.T.]]></given-names>
</name>
<name>
<surname><![CDATA[Richards]]></surname>
<given-names><![CDATA[C.S.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>1995</year>
<volume>56</volume>
<numero>1</numero>
<issue>1</issue>
</nlm-citation>
</ref>
</ref-list>
</back>
</article>
