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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Detalles Bibliográficos
Autores principales: Maggi, Lorenzo, Bonanno, Silvia, Altamura, Concetta, Desaphy, Jean-François
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8234207/
https://www.ncbi.nlm.nih.gov/pubmed/34208776
http://dx.doi.org/10.3390/cells10061521

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8234207/
https://www.ncbi.nlm.nih.gov/pubmed/34208776
http://dx.doi.org/10.3390/cells10061521

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