Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations
作者： Nicola Carboni , Anna Mateddu , Giovanni Marrosu , Eleonora Cocco , Maria Giovanna Marrosu
DOI: 10.1002/MUS.23827
关键词:
摘要: 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, cause premature aging. In this article we review genetic characteristics muscle diseases related to alterations in LMNA gene. There is no single explanation how may these disorders; however, important goals have been achieved understanding pathogenic effects mutations on muscle. Muscle Nerve, 48: 161–170, 2013
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