期刊
CELLS
卷 5, 期 3, 页码 -出版社
MDPI
DOI: 10.3390/cells5030033
关键词
laminopathies; LMNA gene; cardiomyopathy; arrhythmia; limb-girdle muscular dystrophy; congenital muscular dystrophy; Emery-Dreifuss muscular dystrophy
类别
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.
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