Article
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
Muscle & nerve - 1 Oct 2004
Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi A J, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman H J, Mallet A, Wehnert M, Schwartz K, Bonne G
Abstract excerpt
Mutations in LMNA, the gene that encodes nuclear lamins A and C, cause up to eight different diseases collectively referred to as "laminopathies." These diseases affect striated muscle, adipose tissue, peripheral nerve, and bone, or cause features of premature aging. We investigated the consequences of LMNA mutations on nuclear architecture in skin fibroblasts from 13 patients with different laminopathies....
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