CPEO associated with a single nucleotide deletion in the mitochondrial tRNA Tyr gene
2001; Lippincott Williams & Wilkins; Volume: 57; Issue: 12 Linguagem: Inglês
10.1212/wnl.57.12.2298
ISSN1526-632X
AutoresThomas Raffelsberger, Walter Rossmanith, H. Thaller-Antlanger, Reginald E. Bittner,
Tópico(s)RNA and protein synthesis mechanisms
ResumoIn the muscle biopsy of a female patient with chronic progressive external ophthalmoplegia (CPEO), myopathy, and exercise intolerance, the heteroplasmic deletion of a single nucleotide (ΔT5885) 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 ΔT5885 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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