Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility

Background: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM), is a condition caused by biallelic missense pathogenic variants in STAC3, which encodes an important protein necessary for the excitation-relaxation coupling machinery in t...

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Detalles Bibliográficos
Autores principales: Gomes, Gustavo Rodrigues Ferreira, Mariano, Tamiris Carneiro, Braga, Vitor Lucas Lopes, Ribeiro, Erlane Marques, Guimarães, Ingred Pimentel, Pereira, Késia Sindy Alves Ferreira, Nóbrega, Paulo Ribeiro, Pessoa, André Luiz Santos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10452826/
https://www.ncbi.nlm.nih.gov/pubmed/37626540
http://dx.doi.org/10.3390/brainsci13081184

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10452826/
https://www.ncbi.nlm.nih.gov/pubmed/37626540
http://dx.doi.org/10.3390/brainsci13081184

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