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Article

Reversible infantile mitochondrial diseases.

Journal of inherited metabolic disease - 1 May 2015

Boczonadi Veronika, Bansagi Boglarka, Horvath Rita

Abstract excerpt

Mitochondrial diseases are usually severe and progressive conditions; however, there are rare forms that show remarkable spontaneous recoveries. Two homoplasmic mitochondrial tRNA mutations (m.14674T>C/G in mt-tRNA(Glu)) have been reported to cause severe infantile mitochondrial myopathy in the first months of life. If these patients survive the first year of life by extensive life-sustaining measures they...

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Source

Identifiers

PMID: 25407320
DOI: 10.1007/s10545-014-9784-6

Genes

TRMU

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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