Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli A, Battini R.
Marinella G, et al.
Genes (Basel). 2023 Jun 28;14(7):1363. doi: 10.3390/genes14071363.
Genes (Basel). 2023.
PMID: 37510268
Free PMC article.
Review.
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 Congeni …
BACKGROUND: Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases cau …