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  • Title: The A-type lamins: nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases.
    Author: Mounkes LC, Burke B, Stewart CL.
    Journal: Trends Cardiovasc Med; 2001 Oct; 11(7):280-5. PubMed ID: 11709282.
    Abstract:
    Mutations in the lamin A (LMNA) gene are associated with the tissue-specific diseases Emery-Dreifuss muscular dystrophy (EDMD), limb girdle muscular dystrophy (LGMD-1B), dilated cardiomyopathy with conduction system disease (DCM-CD), and Dunnigan's familial partial lipodystrophy (FPLD). Lamins A and C, the products of the LMNA gene, are nuclear intermediate filament proteins and are the major structural components of the lamina network that underlies and supports the nuclear envelope. Nuclear fragility and mislocalization of the nuclear envelope protein emerin are two defects induced by a lack of the A-type lamins. These observations reveal that organization and structural integrity of the nucleus are critical factors in the origins of certain dystrophic and cardiovascular diseases.
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