A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation.
Aoki
J
J
Department of Neurology, Fukushima Medical University, Hikarigaoka, Fukushima, Japan. aojyun@fmu.ac.jp
Yasuno
T
T
Sugie
H
H
Kido
H
H
Nishino
I
I
Shigematsu
Y
Y
Kanazawa
M
M
Takayanagi
M
M
Kumami
M
M
Endo
K
K
Kaneoka
H
H
Yamaguchi
M
M
Fukuda
T
T
Yamamoto
T
T
D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution / Q000235:genetics; D044466:Asian People / Q000235:genetics; D002331:Carnitine / Q000097:blood; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007564:Japan / Q000208:ethnology; D008659:Metabolic Diseases / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics*; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D012206:Rhabdomyolysis / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology
D005819:Genetic Markers; D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine