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Article

A novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 16 Feb 2026

Zhuang Xingyu, Wang Jiayin, Wang Jianing, Lin Yan, Yan Chuanzhu, Ji Kunqian

Abstract excerpt

BACKGROUND: Mitochondrial disorders are a group of heterogeneous diseases marked by deficiencies in oxidative phosphorylation (OXPHOS). A common subtype, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes [SLEs]), is primarily linked to variants in mitochondrial transfer RNA (mt-tRNA) genes, yet the molecular mechanisms underlying many of these variants remain poorly understood....

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PMID: 41692888
DOI: 10.1007/s10072-026-08875-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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