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  • Title: CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene.
    Author: Raffelsberger T, Rossmanith W, Thaller-Antlanger H, Bittner RE.
    Journal: Neurology; 2001 Dec 26; 57(12):2298-301. PubMed ID: 11756614.
    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.
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