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

• Published in: Cells (Basel, Switzerland) Vol. 10; no. 6; p. 1521
• Main Authors: Maggi, Lorenzo, Bonanno, Silvia, Altamura, Concetta, Desaphy, Jean-François
• Format: Journal Article
• Language: English
• 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

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...