The dystrophinopathies in Costa Rica

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 geneti...

Full description

Main Author: Azofeifa Navas, Jorge
Format: Art?culo cient?fico
Language: Inglés
Published: Rev Biol Trop 52(3), 2004 2011
Subjects:
Online Access: http://www.biologiatropical.ucr.ac.cr/intpages/vols/vol52-3.html
http://revistas.ucr.ac.cr/index.php/rbt/article/view/15286
http://hdl.handle.net/10669/533
http://dx.doi.org/10.15517/rbt.v1i2.15286
Summary: 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.