Possible Mechanism Of Muscle Denervation In Emery-Dreifuss Muscular Dystrophy

January 6 2009

Mutations in the nuclear intermediate filament lamin A/C (LMNA) gene are associated with Emery-Dreifuss muscular dystrophy, but cause the disease by unknown mechanisms. Méjat et al. show that one mechanism involves the disruption of neuromuscular junctions. The study appeared online on Monday, January 5, 2009 (http://www.jcb.org) and in the January 12, 2009 print issue of the Journal of Cell Biology.

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...
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