Dystrophinopathies are a group of allelic diseases caused by mutation in the dystrophin (DMD) gene: Deletions (~65%), duplications (~10%), small mutations (25%) and deep intronic mutations and complex rearrangements (~1%). Many exceptions do exist to the reading frame rule and a fine genetic characterization is mandatory for providing genetic diagnosis and making patients eligible for novel personalized trials. We analyzed the dystrophin gene in a large heterogeneous cohort of 891 individuals; reasons for testing were: clinical diagnosis of DMD (485), clinical diagnosis of BMD (226), symptomatic female carriers (43), asymptomatic patient with high CK (38), limb girdle muscle dystrophy (24) and at risk females tested for known familial mutation (78).

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