title: The dystrophinopathies in Costa Rica.
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.
authors.affiliation: Escuela de Biología and Instituto de Investigaciones en Salud, Universidad de Costa Rica. azofeifa@biologia.ucr.ac.cr
authors.forename: Jorge
authors.initials: J
authors.lastname: Azofeifa
mesh_terms: D041321:Chromosomes, Human, X / Q000235:genetics; D003364:Costa Rica; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D005819:Genetic Markers