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Cells 2016, 5(3), 33; doi:10.3390/cells5030033

Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features

1
Neurology IV—Neuroimmunology and Neuromuscular Diseases Unit, Fondazione Istituto Neurologico Carlo Besta, 20133 Milan, Italy
2
Neurology Department, Hospital San Francesco of Nuoro, 08100 Nuoro, Italy
*
Author to whom correspondence should be addressed.
Academic Editor: Thomas Dechat
Received: 22 April 2016 / Revised: 1 June 2016 / Accepted: 8 June 2016 / Published: 11 August 2016
(This article belongs to the Collection Lamins and Laminopathies)
View Full-Text   |   Download PDF [885 KB, uploaded 11 August 2016]   |  

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. View Full-Text
Keywords: laminopathies; LMNA gene; cardiomyopathy; arrhythmia; limb-girdle muscular dystrophy; congenital muscular dystrophy; Emery-Dreifuss muscular dystrophy laminopathies; LMNA gene; cardiomyopathy; arrhythmia; limb-girdle muscular dystrophy; congenital muscular dystrophy; Emery-Dreifuss muscular dystrophy
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Maggi, L.; Carboni, N.; Bernasconi, P. Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features. Cells 2016, 5, 33.

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