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Article

A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).

Neuromuscular disorders : NMD - 1 Mar 2010

Berardo Andres, Coku Jorida, Kurt Bulent, DiMauro Salvatore, Hirano Michio

Abstract excerpt

We describe a 62-year-old woman with chronic progressive external ophthalmoplegia (CPEO), multiple lipomas, diabetes mellitus, and a novel mitochondrial DNA (mtDNA) mutation at nucleotide 4302 (4302A>G) of the tRNA(Ile) gene (MTTI). This is the first mutation at position 44 in the variable loop (V loop) of any mitochondrial tRNA. The muscle biopsy revealed 10% ragged-red/ragged-blue fibers and 25% cytochrome c...

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

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Identifiers

PMID: 20149659
DOI: 10.1016/j.nmd.2010.01.006
PMCID: PMC2841220

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Source receipt: pubmed, retrieved 7 Sept 2026.

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