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Article

A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy.

Neuromuscular disorders : NMD - 1 May 2007

Maeso E, Rueda A, Jiménez S, Del Hoyo P, Martín R, Cabello A, Mendoza L M, Arenas J, Campos Y

Abstract excerpt

We identified a novel G3283A transition in the mitochondrial DNA tRNA(Leu (UUR)) gene in a patient with ptosis, ophthalmoparesis and hyporeflexia. Muscle biopsy showed cytochrome oxidase positive ragged-red fibers, and defects of complexes I, III and IV of the mitochondrial respiratory chain. The mutation was heteroplasmic in muscle of the proband, being absent in her blood. Ragged-red fibers harbored greater...

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Share to Aged, 80 and over
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Muscle, Skeletal

Share to Mutation

Share to Ophthalmoplegia, Chronic Progressive External

Share to RNA, Transfer, Leu

Source

Identifiers

PMID: 17363246
DOI: 10.1016/j.nmd.2007.01.015

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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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