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Article

<i>TMEM43</i> mutations in emery‐dreifuss muscular dystrophy‐related myopathy

19 Nov 2010

Abstract excerpt

OBJECTIVE: Emery-Dreifuss muscular dystrophy (EDMD) is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects. Mutations in several nuclear envelope protein genes have been associated with EDMD in less than half of patients, implying the existence of other causative and modifier genes. We therefore analyzed TMEM43, which...

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PMID: 21391237
DOI: 10.1002/ana.22338

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