Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features.
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ABSTRACT:
SUBMITTER: Maggi L
PROVIDER: S-EPMC5040975 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
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Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features.
Maggi Lorenzo L Carboni Nicola N Bernasconi Pia P
Cells 20160811 3
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 cardiac muscle involvement. This review will focus on genetics and clinical features o ...[more]
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