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Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in Becker Muscular Dystrophy

BACKGROUND: Becker muscular dystrophy (BMD) and X-linked dilated cardiomyopathy (XLDCM) often result from deletion mutations in the dystrophin gene that may lead to expression of an altered dystrophin protein in cardiac muscle. Cardiac involvement is present in about 70% of BMD and all XLDCM cases....

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Detalhes bibliográficos
Main Authors: Kaspar, Rita Wen, Allen, Hugh D., Ray, Will C., Alvarez, Carlos E., Kissel, John T., Pestronk, Alan, Weiss, Robert B., Flanigan, Kevin M., Mendell, Jerry R., Montanaro, Federica
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2826810/
https://ncbi.nlm.nih.gov/pubmed/20031633
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.109.867242
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