Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.
Hamaguchi
Ayumi
A
Ishida
Chiho
C
Iwasa
Kazuo
K
Abe
Akiko
A
Yamada
Masahito
M
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006032:Glycine-tRNA Ligase / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology
D006032:Glycine-tRNA Ligase