Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy

BACKGROUND AND PURPOSE: This study was designed to investigate clinical and pathologic characteristics of five Korean patients with RYR1-related congenital myopathy (CM). METHODS: Five patients from unrelated families were diagnosed with RYR1-related CM via direct or targeted sequencing of RYR1. The...

Descripción completa

Detalles Bibliográficos
Autores principales: Jeong, Ha-Neul, Park, Hyung Jun, Lee, Jung Hwan, Shin, Ha Young, Kim, Se Hoon, Kim, Seung Min, Choi, Young-Chul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Neurological Association 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765257/
https://www.ncbi.nlm.nih.gov/pubmed/29629541
http://dx.doi.org/10.3988/jcn.2018.14.1.58

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765257/
https://www.ncbi.nlm.nih.gov/pubmed/29629541
http://dx.doi.org/10.3988/jcn.2018.14.1.58

Ejemplares similares