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

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

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...

Full description

Bibliographic Details
Main Authors: Xiaojing Li, Bingwei Peng, Chi Hou, Jinliang Li, Yiru Zeng, Wenxiao Wu, Yinting Liao, Yang Tian, Wen-Xiong Chen
Format: Article
Language:English
Published: BMC 2020-11-01
Series:BMC Medical Genetics
Subjects:
Mitochondrial diseases
Encephalomyopathy
TARS2
Whole genome sequencing
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-020-01149-0

Internet

http://link.springer.com/article/10.1186/s12881-020-01149-0

Similar Items