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....

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2009
Gaiak:
Article
Sarrera elektronikoa: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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