Emery-Dreifuss muscular dystrophy type 4

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Emery-Dreifuss muscular dystrophy type 4

An autosomal dominant degenerative myopathy (OMIM:612998) 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
Caused by defects of SYNE1, which encodes a protein that localises to the nuclear membrane and forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organisation.