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Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients

Central Core Disease (CCD) is an inherited neuromuscular disorder characterized by the presence of cores in muscle biopsy. CCD is caused by mutations in the RYR1 gene. This gene encodes the ryanodine receptor 1, which is an intracellular calcium release channel from the sarcoplasmic reticulum to the...

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Detalles Bibliográficos
Autores principales:	Galleni Leão, Leonardo, Santos Souza, Lucas, Nogueira, Letícia, Pavanello, Rita de Cássia Mingroni, Gurgel-Giannetti, Juliana, Reed, Umbertina C, Oliveira, Acary S.B., Cuperman, Thais, Cotta, Ana, FPaim, Julia, Zatz, Mayana, Vainzof, Mariz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Pacini Editore Srl 2020
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7783440/ https://www.ncbi.nlm.nih.gov/pubmed/33458582 http://dx.doi.org/10.36185/2532-1900-030

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