Neuroimmunology and Neuromuscular Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, 70124 Bari, Italy.
Cells. 2021 Jun 16;10(6):1521. doi: 10.3390/cells10061521.
Skeletal muscle ion channelopathies (SMICs) are a large heterogeneous group of rare genetic disorders caused by mutations in genes encoding ion channel subunits in the skeletal muscle mainly characterized by myotonia or periodic paralysis, potentially resulting in long-term disabilities. However, with the development of new molecular technologies, new genes and new phenotypes, including progressive myopathies, have been recently discovered, markedly increasing the complexity in the field. In this regard, new advances in SMICs show a less conventional role of ion channels in muscle cell division, proliferation, differentiation, and survival. Hence, SMICs represent an expanding and exciting field. Here, we review current knowledge of SMICs, with a description of their clinical phenotypes, cellular and molecular pathomechanisms, and available treatments.
骨骼肌离子通道病（SMICs）是一大组异质性罕见遗传性疾病，由编码骨骼肌离子通道亚基的基因突变引起，主要表现为肌强直或周期性瘫痪，可能导致长期残疾。然而，随着新分子技术的发展，包括进行性肌病在内的新基因和新表型最近被发现，极大地增加了该领域的复杂性。在这方面，SMICs 的新进展表明离子通道在肌肉细胞分裂、增殖、分化和存活中的作用不那么常规。因此，SMICs 代表了一个不断发展和令人兴奋的领域。在这里，我们综述了 SMICs 的最新知识，描述了其临床表型、细胞和分子发病机制以及现有的治疗方法。
