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 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

Charcot–Marie–Tooth Disease Associated With a Novel Mutation in MFN2 Presenting With Subacute Vision Loss

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Yafeng Li ◽  
Tomas S. Aleman ◽  
Colin C. Quinn ◽  
Tian Xia ◽  
Charles G. Miller ◽  
...  
Keyword(s):  
Vision Loss ◽  
Novel Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot–Marie–Tooth disease

2019 ◽  
Vol 267 (4) ◽  
pp. 1080-1085 ◽  
Author(s):  
Jun Fu ◽  
Mingming Ma ◽  
Jia Song ◽  
Mi Pang ◽  
Gang Li ◽  
...  
Keyword(s):  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family

2010 ◽  
Vol 42 (6) ◽  
pp. 922-926 ◽  
Author(s):  
Pengfei Lin ◽  
Fei Mao ◽  
Qiji Liu ◽  
Wanling Yang ◽  
Changshun Shao ◽  
...  
Keyword(s):  
Han Chinese ◽  
Deletion Mutation ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B

2006 ◽  
Vol 16 (3) ◽  
pp. 183-187 ◽  
Author(s):  
Gian Maria Fabrizi ◽  
Maria Pellegrini ◽  
Chiara Angiari ◽  
Tiziana Cavallaro ◽  
Alberto Morini ◽  
...  
Keyword(s):  
Gene Dosage ◽  
Novel Mutation ◽  
Disease Type ◽  
Intracellular Domain ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease ◽  
Dosage Sensitivity

scholarly journals A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance

BMC Neurology ◽  
2014 ◽  
Vol 14 (1) ◽  
Author(s):  
Maik Engeholm ◽  
Julia Sekler ◽  
David C Schöndorf ◽  
Vineet Arora ◽  
Jens Schittenhelm ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Dominant Inheritance ◽  
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
Sign in / Sign up

Export Citation Format

Share Document