Article
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Genes - 28 Jun 2023
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
Abstract excerpt
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 characterize the phenotypic spectrum of CACNA1S myopathy, we conducted a systematic review of cases in the literature through...
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