Modifier locus of the skeletal muscle involvement in Emery–Dreifuss muscular dystrophy

Abstract

Autosomal dominant Emery–Dreifuss muscular dystrophy is caused by mutations in LMNA gene encoding lamins A and C. The disease is characterized by early onset joint contractures during childhood associated with humero-peroneal muscular wasting and weakness, and by the development of a cardiac disease in adulthood. Important intra-familial variability… (More)
DOI: 10.1007/s00439-010-0909-1

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