Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.
Horváth
R
R
Scharfe
C
C
Hoeltzenbein
M
M
Do
B H
BH
Schröder
C
C
Warzok
R
R
Vogelgesang
S
S
Lochmüller
H
H
Müller-Höcker
J
J
Gerbitz
K D
KD
Oefner
P J
PJ
Jaksch
M
M
D000140:Acidosis, Lactic / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D017668:Age of Onset; D002648:Child; D018388:Codon, Terminator / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics; D003576:Electron Transport Complex IV / Q000235:genetics*; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009154:Mutation
D018388:Codon, Terminator; D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV