Emery-Dreifuss muscular dystrophy 7, autosomal dominant
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Sign InDescription
Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011). For a discussion of genetic heterogeneity of EDMD, see 310300.
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
6