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

• मुख्य लेखकों: Xiaojing Li (लेखक), Bingwei Peng (लेखक), Chi Hou (लेखक), Jinliang Li (लेखक), Yiru Zeng (लेखक), Wenxiao Wu (लेखक), Yinting Liao (लेखक), Yang Tian (लेखक), Wen-Xiong Chen (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...