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GTR Home > Conditions/Phenotypes > Autosomal dominant Emery-Dreifuss muscular dystrophy

Autosomal dominant Emery-Dreifuss muscular dystrophy

Summary

EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1; 310300) is an X-linked disorder caused by mutation in the emerin gene (EMD; 300384) on Xq28 (Emery, 1989). For a discussion of genetic heterogeneity of EDMD, see 310300. [from OMIM]

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