Article
Genetics of laminopathies.
Novartis Foundation symposium - 1 Jan 2005
Ben Yaou Rabah, Muchir Antoine, Arimura Takuro, Massart Catherine, Demay Laurence, Richard Pascale, Bonne Gisèle
Abstract excerpt
Laminopathies are now recognized as a group of disorders due to mutations of the LMNA gene, which encodes A-type lamins. Primarily, mutations in LMNA have been associated to the autosomal forms of Emery-Dreifuss muscular dystrophy, a rare slowly progressive humero-peroneal muscular dystrophy accompanied by early contractures and dilated cardiomyopathy with conduction defects. LMNA mutations have been reported to...
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