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

Authors

  • Nicola Carboni MD, PhD,

    Corresponding author
    • Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
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  • Anna Mateddu BSc,

    1. Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
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  • Giovanni Marrosu MD,

    1. Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
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  • Eleonora Cocco MD,

    1. Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
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  • Maria Giovanna Marrosu MD

    1. Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
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Correspondence to: N. Carboni; e-mail: nikola.carboni@tiscali.it

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. Muscle Nerve, 48: 161–170, 2013

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