Short-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report

Several clinical phenotypes have been described related to the CACNA1S gene (calcium channel voltage-dependent L-type alpha-1S subunit), such as autosomal dominant hypokalemic periodic paralysis 1 and autosomal dominant malignant hyperthermia susceptibility and are associated with autosomal dominant...

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Detalles Bibliográficos
Autores principales: Benítez-Alonso, Edmar O, López-Hernández, Juan C, Galnares-Olalde, Javier A, Alcalá, Raúl E, Vargas-Cañas, Edwin S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060183/
https://www.ncbi.nlm.nih.gov/pubmed/35509735
http://dx.doi.org/10.7759/cureus.23760

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060183/
https://www.ncbi.nlm.nih.gov/pubmed/35509735
http://dx.doi.org/10.7759/cureus.23760

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