DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD

Abstract

Dystrophinopathy is one of the most common human monogenic diseases which results in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Mutations in the dystrophin gene are responsible for both DMD and BMD. However, the clinical phenotypes and treatments are quite different in these two muscular dystrophies. Since early diagnosis and… (More)
DOI: 10.1186/s12859-017-1504-4

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