1. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
- Author
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van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, and de Visser M
- Subjects
- Adult, Atrial Fibrillation complications, Cardiomyopathies complications, Cardiomyopathies diagnosis, Electrocardiography, Fatal Outcome, Female, Humans, Lamin Type A, Lamins, Lipodystrophy complications, Lipodystrophy diagnosis, Muscular Dystrophies complications, Muscular Dystrophies diagnosis, Mutation, Missense genetics, Tomography, X-Ray Computed, Atrial Fibrillation genetics, Cardiomyopathies genetics, Lipodystrophy genetics, Muscular Dystrophies genetics, Nuclear Proteins genetics
- Abstract
Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy. Cases with lamin A/C mutations presenting with lipodystrophy in combination with cardiac and/or skeletal muscle abnormalities are described.
- Published
- 2002
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