Invited Review
Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations
Nicola Carboni MD, PhD,
Anna Mateddu BSc,
Giovanni Marrosu MD,
Eleonora Cocco MD,
Maria Giovanna Marrosu MD,
Corresponding Author
Nicola Carboni MD, PhD
Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
Correspondence to: N. Carboni; e-mail: [email protected]Search for more papers by this authorAnna Mateddu BSc
Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
Search for more papers by this authorGiovanni Marrosu MD
Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
Search for more papers by this authorEleonora Cocco MD
Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
Search for more papers by this authorMaria Giovanna Marrosu MD
Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
Search for more papers by this authorNicola Carboni MD, PhD,
Anna Mateddu BSc,
Giovanni Marrosu MD,
Eleonora Cocco MD,
Maria Giovanna Marrosu MD,
Corresponding Author
Nicola Carboni MD, PhD
Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
Correspondence to: N. Carboni; e-mail: [email protected]Search for more papers by this authorAnna Mateddu BSc
Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
Search for more papers by this authorGiovanni Marrosu MD
Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
Search for more papers by this authorEleonora Cocco MD
Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
Search for more papers by this authorMaria Giovanna Marrosu MD
Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
Search for more papers by this authorABSTRACT
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. Muscle Nerve, 48: 161–170, 2013
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