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Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features

11 Aug 2016

Abstract excerpt

LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the nuclear envelope proteins, lamin A and C, via alternative splicing. Laminopathies are associated with a wide range of disease phenotypes, including neuromuscular, cardiac, metabolic disorders and premature aging syndromes. The most frequent diseases associated with mutations in the LMNA gene are characterized by skeletal and...

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PMID: 27529282
DOI: 10.3390/cells5030033

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