Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation.
Blakely
Emma L
EL
Swalwell
Helen
H
Petty
Richard K H
RK
McFarland
Robert
R
Turnbull
Douglass M
DM
Taylor
Robert W
RW
D001763:Blepharoptosis / Q000235:genetics; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D017079:Exercise Tolerance / Q000235:genetics*; D006801:Humans; D007383:Intermittent Claudication / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D012357:RNA, Transfer, Lys / Q000235:genetics*
D004272:DNA, Mitochondrial; D012357:RNA, Transfer, Lys