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Article

A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation.

Brain and behavior - 1 Oct 2020

You Cuiping, Xu Na, Qiu Shiyan, Li Yufen, Xu Liyun, Li Xia, Yang Li

Abstract excerpt

INTRODUCTION: G elongation factor mitochondrial 1 (GFM1) encodes one of the mitochondrial translation elongation factors. GFM1 variants were reported to be associated with neurological diseases and liver diseases in a few cases. Here, we present a novel composition of two heterozygous mutations of GFM1 in a boy with epilepsy, mental retardation, and other unusual phenotypes. METHODS: The patient was found to be...

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Identifiers

PMID: 32776492
DOI: 10.1002/brb3.1791
PMCID: PMC7559602

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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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