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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124474/
https://www.ncbi.nlm.nih.gov/pubmed/25084811
http://dx.doi.org/10.1186/1756-0500-7-487

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124474/
https://www.ncbi.nlm.nih.gov/pubmed/25084811
http://dx.doi.org/10.1186/1756-0500-7-487

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