EMD

Description 
emerin

 

EMD (NM_000117.1) encodes emerin, a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. This gene is located at Xq28 and is composed of 6 coding exons. Mutations in EMD have been associated with X-linked Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by muscular dystrophy, join contractures, and cardiomyopathy with conduction defects. EDM mutations have also been seen in patients with a clinical presentation of limb girdle muscular dystrophy (Emery AE et al. Neuromuscul Disord. 2000 Jun;10(4-5):228-32; Ben Yaou et al. Neurology. 2007 May;68(22):1883-94; Ura et al. Arch Neurol. 2007 Jul;64(7):1038-41).

Aliases 
XX-FW88778H2.1, EDMD, LEMD5, STA
Chromosomal Locations 
Xq28
Tests