CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene.

Abstract

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.

• Authors: T Raffelsberger, W Rossmanith, H Thaller-Antlanger, R E Bittner
• Journal: Neurology (Neurology) Vol. 57 Issue 12 Pg. 2298-301 (Dec 26 2001) ISSN: 0028-3878 [Print] United States
• PMID: 11756614 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Nucleotides
• RNA, Transfer, Tyr

Topics

• Adult
• Female
• Humans
• Mitochondria, Muscle (pathology)
• Nucleotides (genetics)
• Ophthalmoplegia, Chronic Progressive External (genetics, pathology)
• RNA, Transfer, Tyr (genetics)
• Sequence Deletion (genetics)