Emery-Dreifuss muscular dystrophy type 5
Emery-Dreifuss muscular dystrophy type 5An 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.
Caused by defects of SYNE2, which encodes a nuclear outer membrane protein that binds cytoplasmic F-actin, tethering the nucleus to the cytoskeleton and helping to maintain the structural integrity of the nucleus.
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