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

• Glavni autori: Xiaojing Li (Autor), Bingwei Peng (Autor), Chi Hou (Autor), Jinliang Li (Autor), Yiru Zeng (Autor), Wenxiao Wu (Autor), Yinting Liao (Autor), Yang Tian (Autor), Wen-Xiong Chen (Autor)
• Format: Knjiga
• Izdano: BMC, 2020-11-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Abstract 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 l...