Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance.
Pulkes
T
T
Department of Molecular Neuroscience, Institute of Neurology, London, UK.
Liolitsa
D
D
Wills
A J
AJ
Hargreaves
I
I
Heales
S
S
Hanna
M G
MG
D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I / Q000172:deficiency / Q000235:genetics; D004734:Energy Metabolism / Q000235:genetics; D017079:Exercise Tolerance / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D018908:Muscle Weakness / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D009245:NADH Dehydrogenase / Q000172:deficiency / Q000235:genetics; D009886:Ophthalmoplegia / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology
D018389:Codon, Nonsense; D004272:DNA, Mitochondrial; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I