Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Congenital myopathies: clinical phenotypes and new diagnostic tools
por: Cassandrini, Denise, et al.
Publicado: (2017) -
Further characterization of
NFIB
‐associated phenotypes: Report of two new individuals
por: Marinella, Gemma, et al.
Publicado: (2022) -
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description
por: Battini, Roberta, et al.
Publicado: (2015) -
Learning disabilities in neuromuscular disorders: a springboard for adult life
por: Astrea, Guja, et al.
Publicado: (2016) -
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report
por: Astrea, Guja, et al.
Publicado: (2016)