scholarly journals A tyrosyl‐tRNA synthetase variant that is responsible for Dominant Intermediate Charcot‐Marie‐Tooth disorder Type C displays decreased fidelity

2011 ◽  
Vol 25 (S1) ◽  
Author(s):  
Eric Allen First ◽  
Clifford A. Froelich ◽  
Charles J. Richardson
Keyword(s):  
Trna Synthetase ◽  
Charcot Marie Tooth ◽  
Type C ◽  
Disorder Type

scholarly journals Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

2002 ◽  
Vol 70 (3) ◽  
pp. 726-736 ◽  
Author(s):  
Annachiara De Sandre-Giovannoli ◽  
Malika Chaouch ◽  
Serguei Kozlov ◽  
Jean-Michel Vallat ◽  
Meriem Tazir ◽  
...  
Keyword(s):  
Nuclear Envelope ◽  
Autosomal Recessive ◽  
Axonal Neuropathy ◽  
Envelope Proteins ◽  
Lamin A ◽  
Charcot Marie Tooth ◽  
Disorder Type

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
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