title: Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features.
abstract: LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the nuclear envelope proteins, lamin A and C, via alternative splicing. Laminopathies are associated with a wide range of disease phenotypes, including neuromuscular, cardiac, metabolic disorders and premature aging syndromes. The most frequent diseases associated with mutations in the LMNA gene are characterized by skeletal and cardiac muscle involvement. This review will focus on genetics and clinical features of laminopathies affecting primarily skeletal muscle. Although only symptomatic treatment is available for these patients, many achievements have been made in clarifying the pathogenesis and improving the management of these diseases.
authors.affiliation: Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione Istituto Neurologico Carlo Besta, 20133 Milan, Italy. lorenzo.maggi@istituto-besta.it.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Maggi
authors.affiliation: Neurology Department, Hospital San Francesco of Nuoro, 08100 Nuoro, Italy. nikola.carboni@tiscali.it.
authors.forename: Nicola
authors.initials: N
authors.lastname: Carboni
authors.affiliation: Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione Istituto Neurologico Carlo Besta, 20133 Milan, Italy. pia.bernasconi@istituto-besta.it.
authors.forename: Pia
authors.initials: P
authors.lastname: Bernasconi
keywords: Emery-Dreifuss muscular dystrophy; LMNA gene; arrhythmia; cardiomyopathy; congenital muscular dystrophy; laminopathies; limb-girdle muscular dystrophy