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Article

Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.

Mitochondrion - 1 Jul 2011

Glatz Catherine, D'Aco Kristin, Smith Sabrina, Sondheimer Neal

Abstract excerpt

An m.1630A>G mutation in the mitochondrial tRNA(Val) (MTTV) was identified in a patient with hearing impairment, short stature and new onset of stroke. This mutation has previously been identified in a patient with the mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). The mother of the proband also had high levels of the m.1630A>G allele present in blood and other tissues, without symptoms. To...

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Identifiers

PMID: 21540128
DOI: 10.1016/j.mito.2011.04.003
PMCID: PMC3109210

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Source receipt: pubmed, retrieved 7 Sept 2026.

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