A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot–Marie–Tooth type 2D in a Chinese family

2015 ◽  
Vol 37 (9) ◽  
pp. 782-787 ◽  
Author(s):  
Aping Sun ◽  
Xiangyi Liu ◽  
Mei Zheng ◽  
Qingli Sun ◽  
Yu Huang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Trna Synthetase ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Tooth Type

A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease

2018 ◽  
Vol 23 (1) ◽  
pp. 55-59 ◽  
Author(s):  
Guohua Zhao ◽  
Jie Song ◽  
Mi Yang ◽  
Xiuhua Song ◽  
Xiaomin Liu
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement

2014 ◽  
Vol 54 (11) ◽  
pp. 911-915 ◽  
Author(s):  
Nobuko Kawakami ◽  
Kenichi Komatsu ◽  
Hirofumi Yamashita ◽  
Kengo Uemura ◽  
Nobuyuki Oka ◽  
...  
Keyword(s):  
Respiratory Muscle ◽  
Novel Mutation ◽  
Trna Synthetase ◽  
Disease Type ◽  
Muscle Involvement ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature

2017 ◽  
Vol 27 (5) ◽  
pp. 487-491 ◽  
Author(s):  
Alberto Andrea Zambon ◽  
Maria Grazia Natali Sora ◽  
Giovanna Cantarella ◽  
Federica Cerri ◽  
Angelo Quattrini ◽  
...  
Keyword(s):  
Case Report ◽  
Vocal Cord ◽  
Vocal Cord Paralysis ◽  
Novel Mutation ◽  
Related Protein ◽  
Review Of The Literature ◽  
Charcot Marie Tooth ◽  
Tooth Type

scholarly journals A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: Clinical and pathological findings

2008 ◽  
Vol 18 (4) ◽  
pp. 334-338 ◽  
Author(s):  
Marc Bitoun ◽  
Tanya Stojkovic ◽  
Bernard Prudhon ◽  
Claude-Alain Maurage ◽  
Philippe Latour ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Pathological Findings ◽  
Charcot Marie Tooth ◽  
Tooth Type ◽  
Dynamin 2

scholarly journals Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

2015 ◽  
Vol 10 (10) ◽  
pp. 1696 ◽  
Author(s):  
Jun Zhang ◽  
A-ping Sun ◽  
Lu Tang ◽  
Qin Liao ◽  
Hui Zhang ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Tooth Type

scholarly journals Case Report A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease

2012 ◽  
Vol 11 (2) ◽  
pp. 1454-1459 ◽  
Author(s):  
Y.W. Wang ◽  
W.T. Han ◽  
M. Jiang ◽  
C.X. Lu ◽  
X.F. Li ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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