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

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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Bibliographic Details
Main Authors: Lorenzo Maggi, Silvia Bonanno, Concetta Altamura, Jean-François Desaphy
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Cells
Subjects:
ion channels
myotonia
periodic paralysis
myopathies
SCN4A
CACNA1S
Online Access:https://www.mdpi.com/2073-4409/10/6/1521

Internet

https://www.mdpi.com/2073-4409/10/6/1521

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