Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
case_series · Level IV
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- Record sourced from PubMed, PMID 12196663.
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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.
Medical subject headings
- Atrial Fibrillation
- Cardiomyopathies
- Lipodystrophy
- Muscular Dystrophies
- Nuclear Proteins