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Duchenne/Becker muscular dystrophy (DMD/BMD) is a recessive, X-linked disorder caused by a mutation in the dystrophin gene. Deletions account for approximately 60-65% of mutations, duplications for 5-10%. The remaining cases are mainly point mutations. According to Monaco theory clinical form of the disease depends on maintaining or disrupting the reading(More)
INTRODUCTION Duchenne/Becker muscular dystrophies (DMD/BMD) are allelic X-linked, recessive proximal muscle disorders, caused by mutations in the dystrophin gene located in Xp21. DMD occurs with the incidence 1:3500, BMD with the incidence of 1:18,500 new-born males. Approximately about 60% of mutations in the dystrophin gene are deletions,(More)
INTRODUCTION Duchenne muscular dystrophy (DMD) is a severe, progressive, X-linked muscular disease, which affects 1 in 3500 male newborns. The course of the other allelic form of the disease (Becker muscular dystrophy--BMD) is milder. Female relatives of affected subjects may carry the mutated gene. AIM OF THE STUDY The purpose of this study was to detect(More)
BACKGROUND AND PURPOSE Duchenne/Becker muscular dystrophies (DMD/BMD) lead to progressive irreversible muscle deterioration caused by recessive mutations in the dystrophin encoding gene (Xp21.1). Approximately 60% of mutations are deletions, 10% are duplications and the remaining 30% are point mutations. The aim of the study is to present the rare(More)
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