Article
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
Nature genetics - 1 Mar 1999
Bonne G, Di Barletta M R, Varnous S, Bécane H M, Hammouda E H, Merlini L, Muntoni F, Greenberg C R, Gary F, Urtizberea J A, Duboc D, Fardeau M, Toniolo D, Schwartz K
Abstract excerpt
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a cardiomyopathy with conduction blocks which is life-threatening. Two modes of inheritance exist, X-linked (OMIM 310300) and autosomal dominant (EDMD-AD; OMIM 181350). EDMD-AD is clinically identical to the X-linked forms of the disease. Mutations in...
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