Emery-Dreifuss muscular dystrophy 4—autosomal dominant

NEUROLOGY

An über rare form of Emery-Dreifuss muscular dystrophy (OMIM:612998), a degenerative myopathy characterised by muscle weakness and atrophy, early contractures of elbows, Achilles tendons and spine, and cardiomyopathy with conduction defects. The CNS is generally spared.

Molecular pathology Defects of SYNE1, which encodes a protein that forms a network between organelles and the actin cytoskeleton to maintain the subcellular spatial organisation, cause Emery-Dreifuss muscular dystrophy 4—autosomal dominant. 

Synonym Emery-Dreifuss muscular dystrophy with variable features 

References http://www.uniprot.org/uniprot/Q8NF91

http://www.omim.org/entry/612998