Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations.

Abstract

Alterations of the lamin A/C (LMNA) gene are associated with different clinical entities, including disorders that affect skeletal and cardiac muscle, peripheral nerves, metabolism, bones, and disorders that cause premature aging. In this article we review the clinical and genetic characteristics of cardiac and skeletal muscle diseases related to alterations in the LMNA gene. There is no single explanation of how LMNA gene alterations may cause these disorders; however, important goals have been achieved in understanding the pathogenic effects of LMNA gene mutations on cardiac and skeletal muscle.

• Authors: Nicola Carboni, Anna Mateddu, Giovanni Marrosu, Eleonora Cocco, Maria Giovanna Marrosu
• Journal: Muscle & nerve (Muscle Nerve) Vol. 48 Issue 2 Pg. 161-70 (Aug 2013) ISSN: 1097-4598 [Electronic] United States
• PMID: 23450819 (Publication Type: Journal Article, Review)
• Copyright: © 2013 Wiley Periodicals, Inc.

Chemical References

• Lamin Type A

Topics

• Animals
• Humans
• Lamin Type A (genetics)
• Muscle, Skeletal (pathology)
• Muscular Diseases (classification, genetics, pathology)
• Mutation (genetics)
• Myocardium (pathology)