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Article

A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency.

European journal of medical genetics - 1 Oct 2021

Lundquist Alberte A, Farholt Stense, Børresen Malene L, Dunø Morten, Wibrand Flemming, Witting Nanna, Østergaard Elsebet

Abstract excerpt

BACKGROUND: Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial disorder associated with variable penetrance and partial to full remission of symptoms. OBJECTIVE: To describe features of maternally related individuals with a novel variant associated with RIRCD. MATERIALS AND METHODS: Nine maternally related individuals aged 23 months to 64 years are described through physical...

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Identifiers

PMID: 34400372
DOI: 10.1016/j.ejmg.2021.104306

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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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