A novel missense mutation (837T-->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency.
Sugie
H
H
Department of Pediatric Neurology, Hamamatsu City Medical Center for Developmental Medicine, Shizuoka, Japan.
Sugie
Y
Y
Ito
M
M
Fukuda
T
T
D002493:Central Nervous System Diseases / Q000235:genetics; D002648:Child; D006801:Humans; D007564:Japan; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D010735:Phosphoglycerate Kinase / Q000172:deficiency / Q000235:genetics*; D017354:Point Mutation; D017421:Sequence Analysis
D010735:Phosphoglycerate Kinase