A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family

• Main Authors: Keze Ma (Author), Mingyu Xie (Author), Xiaoguang He (Author), Guojun Liu (Author), Xiaomei Lu (Author), Qi Peng (Author), Baimao Zhong (Author), Ning Li (Author)
• Format: Book
• Published: BMC, 2018-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Genetic defects in the mitochondrial aminoacyl-tRNA synthetase are important causes of mitochondrial disorders. VARS2 is one of the genes encoding aminoacyl-tRNA synthetases. Recently, an increasing number of pathogenic variants of VARS2 have been reported. Case presentation We r...