Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort

Introduction Duchenne muscular dystrophy(DMD) is induced by a wide spectrum of mutationssuch as exon deletions, duplications and small mutationsin the dystrophingene. This is the first study on the mutationalspectrum in a cohort of DMD children from India, with an emphasis to compare the mutationsin familial and sporadic forms.