CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene.
In the muscle biopsy of a female patient with chronic progressive external ophthalmoplegia (CPEO), myopathy, and exercise intolerance, the heteroplasmic deletion of a single nucleotide (DeltaT5885) in the mitochondrial tRNA tyrosine gene (tRNA(Tyr)) was found. The mutation was associated with the mitochondrial phenotype of individual muscle fibers, suggesting a causal association of DeltaT5885 with the mitochondrial disease phenotype. The microdeletion was absent from the patient's and her relatives' blood, indicating a spontaneous somatic origin.
Raffelsberger
T
T
Neuromuscular Research Department, Institute of Anatomy, University of Vienna, Austria.
Rossmanith
W
W
Thaller-Antlanger
H
H
Bittner
R E
RE
D000328:Adult; D005260:Female; D006801:Humans; D008931:Mitochondria, Muscle / Q000473:pathology*; D009711:Nucleotides / Q000235:genetics*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics* / Q000473:pathology; D012365:RNA, Transfer, Tyr / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
D009711:Nucleotides; D012365:RNA, Transfer, Tyr