Article
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.
Handbook of clinical neurology - 1 Jan 2013
Bonne Gisèle, Quijano-Roy Susana
Abstract excerpt
The nuclear envelopathies, more frequently known as laminopathies are a rapidly expanding group of human hereditary diseases caused by mutations of genes that encode proteins of the nuclear envelope. The most frequent and best known form is Emery-Dreifuss muscular dystrophy (EDMD), a skeletal myopathy characterized by progressive muscular weakness, joint contractures, and cardiac disease. EMD gene, encoding...
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