Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature

Background: Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases caused by mutations in a large group of genes. One of these is CACNA1S, which is recognized as the cause of Dihydropyridine Receptor Congenital Myopathy. Methods: To better characteriz...

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Detalles Bibliográficos
Autores principales: Marinella, Gemma, Orsini, Alessandro, Scacciati, Massimo, Costa, Elisa, Santangelo, Andrea, Astrea, Guja, Frosini, Silvia, Pasquariello, Rosa, Rubegni, Anna, Sgherri, Giada, Corsi, Martina, Bonuccelli, Alice, Battini, Roberta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379235/
https://www.ncbi.nlm.nih.gov/pubmed/37510268
http://dx.doi.org/10.3390/genes14071363

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379235/
https://www.ncbi.nlm.nih.gov/pubmed/37510268
http://dx.doi.org/10.3390/genes14071363

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