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Article

Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report.

BMC medical genetics - 5 Nov 2020

Li Xiaojing, Peng Bingwei, Hou Chi, Li Jinliang, Zeng Yiru, Wu Wenxiao, Liao Yinting, Tian Yang, Chen Wen-Xiong

Abstract excerpt

BACKGROUND: Mitochondrial encephalomyopathy caused by bi-allelic deleterious variants in TARS2 is rare. To date, only two pedigrees were reported in the literature and the connection between the gene and disease needs further study. CASE PRESENTATION: We report one infant who presented with limb hypertonia, epilepsy, developmental delay, and increased serum lactate from a non-consanguineous Chinese family....

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PMID: 33153448
DOI: 10.1186/s12881-020-01149-0
PMCID: PMC7643390

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