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vol.52 issue3Genetics of hereditary motor and sensory neuropathy and the Costa Rican contributionLas mutaciones inestables, nuevo reto para el consejo genético de enfermedades hereditarias author indexsubject indexarticles search
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Revista de Biología Tropical

On-line version ISSN 0034-7744Print version ISSN 0034-7744


AZOFEIFA, Jorge. The dystrophinopathies in Costa Rica. Rev. biol. trop [online]. 2004, vol.52, n.3, pp.485-490. ISSN 0034-7744.

A five-years long study aiming to describe the basic genetic epidemiology of the dystrophinopathies in Costa Rica recruited 31 patients with clinical symptoms of DMD/BMD at the National Children’s Hospital (HNN). This center is the obligate reference hospital of the national health system for genetic diseases, however, the geographic origin of the patients, a low percentage of deletions and a high proportion of de novo mutations found among them indicate that a significant ascertainment bias impedes a substantial scientific approach to confront and alleviate the problems posed by these severe diseases in Costa Rica. Rev. Biol. Trop. 52(3): 485- 490. Epub 2004 Dic 15.

Keywords : Muscular dystrophy; Duchenne; Becker; X chromosome; carriers; deletions; haplotypes.

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