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Article

[A mitochondrial DNA mutation in the heteroplasmic tRNA-Tyr gene associated with chronic progressive external ophthalmoplegia--clinical and molecular biological study].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1997

Sahashi K, Ibi T, Yoneda M, Tanaka M, Ohno K

Abstract excerpt

Determination of the total mtDNA sequence of a 42 year-old female with chronic progressive external ophthalmoplegia (CPEO) revealed a heteroplasmic G-to-A transition at nt. 5877 in the tRNA-Tyr gene and a homoplasmic T-to-C transition in the tRNA-Gln gene at 4343. The former mutation was located in a highly conserved nucleotide in the DHU loop. This mutation by restriction enzyme analysis using Ddel was observed...

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Source

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PMID: 9436448

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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