Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms

Central Core Disease (CCD) is a genetic neuromuscular disorder characterized by the presence of cores in muscle biopsy. The inheritance has been described as predominantly autosomal dominant (AD), and the disease may present as severe neonatal or mild adult forms. Here we report clinical and molecul...

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Detalles Bibliográficos
Autores principales: Cotta, Ana, Souza, Lucas Santos, Carvalho, Elmano, Feitosa, Leticia Nogueira, Cunha, Antonio, Navarro, Monica Machado, Valicek, Jaquelin, Menezes, Miriam Melo, Neves, Simone Vilela Nunes, Xavier-Neto, Rafael, Vargas, Antonio Pedro, Takata, Reinaldo Issao, Paim, Julia Filardi, Vainzof, Mariz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141459/
https://www.ncbi.nlm.nih.gov/pubmed/35627144
http://dx.doi.org/10.3390/genes13050760

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