The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia.

doi:10.1016/j.nmd.2009.01.014

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Article

The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia.

Neuromuscular disorders : NMD - 1 Apr 2009

Sotiriou Evangelia, Coku Jorida, Tanji Kurenai, Huang Hua-bin, Hirano Michio, DiMauro Salvatore

Abstract excerpt

We sequenced all mitochondrial tRNA genes in a 61-year-old man with chronic progressive external ophthalmoplegia and mitochondrial myopathy but without mtDNA rearrangements, and identified a heteroplasmic m.3244G>A mutation in the tRNA(Leu(UUR)) gene. This mutation had been previously associated with the MELAS phenotype, but not described in any detail. The mutation load in muscle was 84% and COX-negative fibers...

Topics

Base Sequence
Conserved Sequence
DNA Mutational Analysis
DNA, Mitochondrial
Disease Progression
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Mitochondrial Diseases
Muscle Fibers, Skeletal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nucleotides

Oculomotor Muscles

Ophthalmoplegia, Chronic Progressive External

Quadriceps Muscle

RNA, Transfer, Leu

Source

Open in PubMed Open full text

Identifiers

PMID: 19285865
DOI: 10.1016/j.nmd.2009.01.014
PMCID: PMC2699630

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