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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2009
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Article
Accesso online: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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