Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.
Horváth
R
R
Lochmüller
H
H
Hoeltzenbein
M
M
Müller-Höcker
J
J
Schoser
B G
BG
Pongratz
D
D
Jaksch
M
M
D000251:Adenosine Triphosphatases / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D018389:Codon, Nonsense; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics* / Q000378:metabolism; D005500:Follow-Up Studies; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D017240:Mitochondrial Myopathies / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D012150:Polymorphism, Restriction Fragment Length; D020127:Recovery of Function; D012075:Remission, Spontaneous
D018389:Codon, Nonsense; D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV; D000251:Adenosine Triphosphatases