We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features.
- Authors
Maggi, Lorenzo; Carboni, Nicola; Bernasconi, Pia
- Abstract
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 of laminopathies affecting primarily skeletal muscle. Although only symptomatic treatment is available for these patients, many achievements have been made in clarifying the pathogenesis and improving the management of these diseases.
- Subjects
SKELETAL muscle; GENETIC mutation; NUCLEAR membranes; PHENOTYPES; CARDIOMYOPATHIES; DISEASES
- Publication
Cells (2073-4409), 2016, Vol 5, Issue 3, p33
- ISSN
2073-4409
- Publication type
Article
- DOI
10.3390/cells5030033