Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy

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, wi...

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Published inCells (Basel, Switzerland) Vol. 10; no. 6; p. 1521
Main Authors Maggi, Lorenzo, Bonanno, Silvia, Altamura, Concetta, Desaphy, Jean-François
Format Journal Article
LanguageEnglish
Published Basel MDPI AG 16.06.2021
MDPI
Subjects
CACNA1S
Cell differentiation
Cell division
Disease
Genes
Genetic disorders
Ion channels
Musculoskeletal system
Mutation
myopathies
Myotonia
Paralysis
periodic paralysis
Phenotypes
Potassium
Review
SCN4A
Skeletal muscle
Sodium
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Summary: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.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
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ObjectType-Review-1
ISSN:2073-4409
2073-4409
DOI:10.3390/cells10061521