Diagnóstico molecular de distrofia muscular de Duchenne/Becker en una familia sin antecedentes patológicos de la enfermedad

摘要: Foundation : Duchenne and  Becker muscular dystrophies are progressive neuromuscular diseases with a pattern of recessive inherited link to chromosome X and caused by mutations in the gene which codifies for dystrophin. The study possible carriers affected families is crucial since it generates expectations options on genetic advisory. Objective describe molecular diagnosis Duchenne/Becker dystrophy  family without pathological antecedents disease. Methods an experimental was developed about deletions dystrophy, patient clinical It used multiple PCR technique following methods described Beggs Chamberlain. In addition, women were studied analysis polymorphic markers through short repetitions (CA) n tandem. Results exons from 47 52 identified patient; so as precedence related disease (maternal grandfather). determined state non-carrier three family. not exclude germline mosaicism child´s mother. Conclusion occurrence novo mutation inferred. allowed confirming child; addition offer adequate advisory