Emery-Dreifuss muscular dystrophy 5—autosomal dominant

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Emery-Dreifuss muscular dystrophy 5—autosomal dominant2016-11-25T19:44:58+00:00

Emery-Dreifuss muscular dystrophy 5—autosomal dominant 

NEUROLOGY

An autosomal dominant degenerative myopathy (OMIM:612999) characterised by weakness and muscle atrophy without nervous system involvement, early contractures of elbows, Achilles tendons and spine, and cardiomyopathy with conduction defects.

Molecular pathology Defects of SYNE2, which encodes a nuclear outer membrane protein that binds cytoplasmic F-actin, tethering the nucleus to the cytoskeleton and helping maintain the structural integrity of the nucleus, cause Emery-Dreifuss muscular dystrophy 5—autosomal dominant. 

References http://www.uniprot.org/uniprot/Q8WXH0

http://www.omim.org/entry/612999

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