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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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Auteurs principaux: Maggi, Lorenzo, Bonanno, Silvia, Altamura, Concetta, Desaphy, Jean-François
Format: Artigo
Langue:Inglês
Publié: MDPI 2021
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8234207/
https://ncbi.nlm.nih.gov/pubmed/34208776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cells10061521
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