Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.
Whittaker
R G
RG
Mitochondrial Research Group, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK. r.whittaker@ncl.ac.uk
Blackwood
J K
JK
Alston
C L
CL
Blakely
E L
EL
Elson
J L
JL
McFarland
R
R
Chinnery
P F
PF
Turnbull
D M
DM
Taylor
R W
RW
D000328:Adult; D000368:Aged; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000652:urine*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000652:urine; D009154:Mutation; D017063:Outcome Assessment, Health Care / Q000379:methods*; D011379:Prognosis; D012322:RNA Precursors / Q000235:genetics*; D012356:RNA, Transfer, Leu / Q000235:genetics*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
D004272:DNA, Mitochondrial; D012322:RNA Precursors; D012356:RNA, Transfer, Leu; C091001:pre-tRNA(Leu)