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Article

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

European journal of human genetics : EJHG - 1 Oct 2015

Janer Alexandre, van Karnebeek Clara Dm, Sasarman Florin, Antonicka Hana, Al Ghamdi Malak, Shyr Casper, Dunbar Mary, Stockler-Ispiroglu Sylvia, Ross Colin J, Vallance Hilary, Dionne Janis, Wasserman Wyeth W, Shoubridge Eric A

Abstract excerpt

RMND1 is an integral inner membrane mitochondrial protein that assembles into a large 240 kDa complex to support translation of the 13 polypeptides encoded on mtDNA, all of which are essential subunits of the oxidative phosphorylation (OXPHOS) complexes. Variants in RMND1 produce global defects in mitochondrial translation and were first reported in patients with severe neurological phenotypes leading to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25604853
DOI: 10.1038/ejhg.2014.293
PMCID: PMC4592087

Genes

RMND1

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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