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Article

Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.

American journal of medical genetics. Part A - 1 Jan 2023

He Peiqing, Wang Qingming, Hong Xiaochun, Yuan Haiming

Abstract excerpt

Biallelic pathogenic variants in the TARS2 gene cause combined oxidative phosphorylation deficiency, subtype 21 (COXPD21, MIM #615918), which is a rare mitochondrial encephalomyopathy (ME) characterized by early-onset severe axial hypotonia, limb hypertonia, delayed psychomotor development, epilepsy, and brain anomalies. Currently, eight COXPD21 patients have been reported in the literature, and 11 pathogenic...

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PMID: 36218002
DOI: 10.1002/ajmg.a.62988

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