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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
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 |
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