CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene.
case_report · Level V
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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.
Medical subject headings
- Mitochondria, Muscle
- Nucleotides
- Ophthalmoplegia, Chronic Progressive External
- RNA, Transfer, Tyr
- Sequence Deletion