Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report

BACKGROUND: Central core disease is a congenital myopathy, characterized by presence of central core-like areas in muscle fibers. Patients have mild or moderate weakness, hypotonia and motor developmental delay. The disease is caused by mutations in the human ryanodine receptor gene (RYR1), which en...

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Detalhes bibliográficos
Main Authors: Cuperman, Thais, Fernandes, Stephanie A, Lourenço, Naila CV, Yamamoto, Lydia U, Silva, Helga CA, Pavanello, Rita CM, Yamamoto, Guilherme L, Zatz, Mayana, Oliveira, Acary SB, Vainzof, Mariz
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4124474/
https://ncbi.nlm.nih.gov/pubmed/25084811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-7-487
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