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Cells
Volume 10
Issue 6
10.3390/cells10061521
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Review

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

by
Lorenzo Maggi
1,*,
Silvia Bonanno
1,
Concetta Altamura
2 and
Jean-François Desaphy
2
1
Neuroimmunology and Neuromuscular Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy
2
Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, 70124 Bari, Italy
*
Author to whom correspondence should be addressed.
Cells 2021, 10(6), 1521; https://doi.org/10.3390/cells10061521
Submission received: 4 May 2021 / Revised: 3 June 2021 / Accepted: 10 June 2021 / Published: 16 June 2021
(This article belongs to the Special Issue Muscle Homeostasis and Regeneration: From Molecular Mechanisms to Therapeutic Opportunities)
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Abstract

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.
Keywords: ion channels; myotonia; periodic paralysis; myopathies; SCN4A; CACNA1S; CLCN1; KCNJ2 ion channels; myotonia; periodic paralysis; myopathies; SCN4A; CACNA1S; CLCN1; KCNJ2

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MDPI and ACS Style

Maggi, L.; Bonanno, S.; Altamura, C.; Desaphy, J.-F. Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy. Cells 2021, 10, 1521. https://doi.org/10.3390/cells10061521

AMA Style

Maggi L, Bonanno S, Altamura C, Desaphy J-F. Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy. Cells. 2021; 10(6):1521. https://doi.org/10.3390/cells10061521

Chicago/Turabian Style

Maggi, Lorenzo, Silvia Bonanno, Concetta Altamura, and Jean-François Desaphy. 2021. "Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy" Cells 10, no. 6: 1521. https://doi.org/10.3390/cells10061521

APA Style

Maggi, L., Bonanno, S., Altamura, C., & Desaphy, J.-F. (2021). Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy. Cells, 10(6), 1521. https://doi.org/10.3390/cells10061521

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