| Title | Novel RYR1 missense mutations in six Chinese patients with central core disease |
| Authors | Gu, Mei Zhang, Shu Hu, Jing Yuan, Yun Wang, Zhaoxia Da, Yuwei Wu, Shiwen |
| Affiliation | Hebei Med Univ, Affiliated Hosp 3, Dept Neurol, Shijiazhuang, Peoples R China. Peking Univ, Hosp 1, Dept Neurol, Beijing, Peoples R China. Capital Med Univ, Chinese Armed Police Forces, Xuanwu Hosp, Gen Hosp,Dept Neurol, Beijing, Peoples R China. 69 Yongding Rd, Beijing 100039, Peoples R China. |
| Keywords | Central core disease (CCD) Ryanodine receptor1 (RYR1) Malignant hyperthermia susceptibility (MHS) Congenital myopathy (CM) RYANODINE RECEPTOR CA2+ RELEASE DOMAIN FORMS |
| Issue Date | 2014 |
| Publisher | 神经科学快报 |
| Citation | NEUROSCIENCE LETTERS.2014,566,32-35. |
| Abstract | Central core disease (CCD) is a genetically heterogeneous congenital myopathy, and ryanodine receptor 1 (RYR1, gene ID6261) is the only pathogenicity gene until now. Data on mutation characteristics of RYR1 in the Chinese CCD population are scarce. This study searched for mutations in the C-terminal-encoding domain of RYR1 in six Chinese patients with CCD, and identified five missense mutations (N4807F, R4861H, R4893P, G4897D, and I4898T). Among them, N4807F, G4897D were novel while R4861H, R4893P, and I4898T were previously reported. All missense mutations were highly conserved across the species of human, mouse, rabbit, fish, and pig. This study found that mutations could be identified in about 85% CCD patients, even if only the C-terminal-encoding region of RYR1 was screened. Many mutations clustered in exons 100-102. (C) 2014 Elsevier Ireland Ltd. All rights reserved. |
| URI | http://hdl.handle.net/20.500.11897/189446 |
| ISSN | 0304-3940 |
| DOI | 10.1016/j.neulet.2014.02.015 |
| Indexed | SCI(E) PubMed |
| Appears in Collections: | 第一医院 |
