ABSTRACT

Duchenne Muscular Dystrophy and Becker Musculer Dystrophy (milder form) inherited as X linked are the important groups of muscular dystrophies. Both of these types are caused by mutations in dystrophin gene. Partial deletions of variable size are common (%65). Here we present the dystrophin gene mutation results of 16 cases and their families with the diagnosis of muscular dystrophy referred to our department (exons; pb, pm, 3, 4, 8, 12, 17, 19, 32, 34, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51 and 52) and the results were correlated with the clinical findings. In one out of 16 cases who has no dystrophin gene mutation diagnosed as myotonic dystrophy. In 55% cases, diagnosed as DMD and BMD, dystrophin gene mutation had been observed. In all cases, the diagnosis were supported with clinical findings, muscle biopsy results, EMG results, biochemistry results (high CPK level). In non-mutated cases, 7 patient had been diagnosed as DMD whereas 3 women had been diagnosed as DMD carrier. The results may represent us the importance of the dystrophin gene mutations in the diagnosis and prenatal diagnosis of muscular dystropy.

Keywords: Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Dystrophin Gene