NOVEL MUTATION OF THE ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE (ETFDH) GENE IN THE ISOLATED MYOPATHIC FORM OF COENZYME q10 DEFICIENCY.
O
O
Gorukmez
O
O
Gorukmez
S Ozemri
SO
Sag
S
S
Erdol
H
H
Saglam
T
T
Yakut
D000328:Adult; D001259:Ataxia / Q000235:genetics*; D044927:Electron-Transferring Flavoproteins / Q000235:genetics*; D006801:Humans; D007506:Iron-Sulfur Proteins / Q000235:genetics*; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics*; D018908:Muscle Weakness / Q000235:genetics*; D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D014451:Ubiquinone / Q000172:deficiency* / Q000235:genetics; D055815:Young Adult
D044927:Electron-Transferring Flavoproteins; D007506:Iron-Sulfur Proteins; D014451:Ubiquinone; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase