Article
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Annals of neurology - 1 Aug 2000
Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane H M, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein E M, Eymard B, Duboc D, Penisson-Besnier I, Cuisset J M, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F
Abstract excerpt
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life-threatening cardiomyopathy with conduction blocks. We recently identified LMNA encoding two nuclear envelope proteins, lamins A and C, to be implicated in the autosomal dominant form of EDMD. Here, we report on the variability of the phenotype...
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