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Article

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy.

Human mutation - 1 Feb 2021

Campbell Teresa, Lou Xiaoting, Slone Jesse, Brown Jenice, Bromwell Meghan, Liu Jie, Bai Renkui, Haude Katrina, Balog Amanda, Cui Hong, Zou Weiwei, Yang Li, Al-Beshri Ali, Huang Taosheng

Abstract excerpt

The MT-TL1 gene codes for the mitochondrial leucine transfer RNA (tRNALeu(UUR) ) necessary for mitochondrial translation. Pathogenic variants in the MT-TL1 gene result in mitochondriopathy in humans. The m.3250T>C variant in the MT-TL1 gene has been previously associated with exercise intolerance and mitochondrial myopathy, yet disease classification for this variant has not been consistently reported. Molecular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33259687
DOI: 10.1002/humu.24143

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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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