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)
|