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

被引：25

作者：

Carboni, Nicola ^{[1
]}

Mateddu, Anna ^{[1
]}

Marrosu, Giovanni ^{[1
]}

Cocco, Eleonora ^{[1
]}

Marrosu, Maria Giovanna ^{[1
]}

机构：

[1] Univ Cagliari, Dept Publ Hlth Clin & Mol Med, Multiple Sclerosis Ctr, I-09100 Cagliari, Italy

来源：

MUSCLE & NERVE | 2013年 / 48卷 / 02期

关键词：

cardiac muscle; LMNA gene; peripheral nerve; premature aging; skeletal muscle; DREIFUSS MUSCULAR-DYSTROPHY; FAMILIAL PARTIAL LIPODYSTROPHY; CAUSE AUTOSOMAL-DOMINANT; DROPPED HEAD SYNDROME; A-TYPE LAMINS; DILATED CARDIOMYOPATHY; LMNA GENE; ATRIOVENTRICULAR-BLOCK; NUCLEAR LAMINA; SUDDEN-DEATH;

D O I：

10.1002/mus.23827

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

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, 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.

引用

页码：161 / 170

页数：10

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