Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region

BACKGROUND: Central core disease (CCD) is a congenital myopathy characterized by distinctive cores in muscle fibers. Mutations in the gene encoding ryanodine receptor 1 (RYR1) have been identified in most CCD patients. CASE REPORT: Two unrelated patients presented with slowly progressive or nonprogr...

Descripción completa

Detalles Bibliográficos
Autores principales: Jung, Na-Yeon, Park, Yeong-Eun, Shin, Jin-Hong, Lee, Chang Hun, Jung, Dae-Soo, Kim, Dae-Seong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Neurological Association 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302187/
https://www.ncbi.nlm.nih.gov/pubmed/25628744
http://dx.doi.org/10.3988/jcn.2015.11.1.97

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302187/
https://www.ncbi.nlm.nih.gov/pubmed/25628744
http://dx.doi.org/10.3988/jcn.2015.11.1.97

Ejemplares similares