title: 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: Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, Via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy. nikola.carboni@tiscali.it
authors: Nicola
authors: N
authors: Carboni
authors: Anna
authors: A
authors: Mateddu
authors: Giovanni
authors: G
authors: Marrosu
authors: Eleonora
authors: E
authors: Cocco
authors: Maria Giovanna
authors: MG
authors: Marrosu
mesh_terms: D000818:Animals; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000145:classification / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000473:pathology*
chemical_list: D034904:Lamin Type A
keywords: LMNA gene; cardiac muscle; peripheral nerve; premature aging; skeletal muscle