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

• Autors principals: Keze Ma (Autor), Mingyu Xie (Autor), Xiaoguang He (Autor), Guojun Liu (Autor), Xiaomei Lu (Autor), Qi Peng (Autor), Baimao Zhong (Autor), Ning Li (Autor)
• Format: Llibre
• Publicat: BMC, 2018-11-01T00:00:00Z.
• Matèries: article
• Accés en línia: 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...