Article
TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.
Orphanet journal of rare diseases - 11 Oct 2024
Zhang Shujie, Qin Haisong, Wang Qingming, Wang Yingfei, Liu Yanhui, Yang Qi, Luo Jingsi, Qin Zailong, Ji Xiang, Kan Lijuan, Geng Guoxing, Huang Jing, Wei Shengkai, Chen Qiuli, Shen Yiping, Yuan Haiming, Lai Baoling
Abstract excerpt
Biallelic pathogenic variants in TARS2 lead to 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, psychomotor developmental delay, epilepsy and brain anomalies. To date, approximately 28 individuals with COXPD21 and 28 TARS2 variants have been identified. In...
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