Keywords
duchenne
becker
X chromosome
carriers
deletions
haplotypes
distrofia muscula
duchenne
becker
cromosoma X
portadoras
deleciones
haplotipos
How to Cite
Abstract
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.References
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