Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy

  title={Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy},
  author={Rita Wen Kaspar and Hugh D. Allen and Will Ray and Carlos E. Alvarez and John T. Kissel and Alan Pestronk and Robert B. Weiss and Kevin M. Flanigan and Jerry R. Mendell and Federica Alice Maria Montanaro},
  journal={Circulation: Cardiovascular Genetics},
BACKGROUND Becker muscular dystrophy (BMD) and X-linked dilated cardiomyopathy often result from deletion mutations in the dystrophin gene that may lead to expression of an altered dystrophin protein in cardiac muscle. [] Key Method Patients were grouped based on the dystrophin protein domain affected by the deletion. Deletions affecting the amino-terminal domain are associated with early-onset dilated cardiomyopathy (DCM; mid-20s), whereas deletions removing part of the rod domain and hinge 3 have a later…

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