A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance.
The authors report a novel A5874G mutation in the mitochondrial tRNA tyrosine (tRNA(TYr)) gene associated with exercise intolerance, limb weakness, and complex III deficiency. The mutation was absent in blood from the patient and all maternal family members, indicating that it may be a spontaneous somatic mutation in muscle. This is the first point mutation in the tRNA(TYr) gene associated with human disease and is further evidence that exercise intolerance associated with complex III deficiency is genetically heterogeneous.
Pulkes
T
T
Section of Neurogenetics, Institute of Neurology, London, UK.
Siddiqui
A
A
Morgan-Hughes
J A
JA
Hanna
M G
MG
D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D017079:Exercise Tolerance / Q000235:genetics*; D005260:Female; D006801:Humans; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D012343:RNA, Transfer / Q000235:genetics*; D012365:RNA, Transfer, Tyr / Q000235:genetics*
D004272:DNA, Mitochondrial; D012365:RNA, Transfer, Tyr; D012343:RNA, Transfer