A rare homozygous mutation in the YARS2 gene presents with hypertrophic cardiomyopathy, lactic acidosis and anemia in a Chinese infant

Author:

Xiang Dandan,Xu KangkangORCID,Chen Mei,Zhang Zhongman,Sun Ningning,Qi Yuying,Lu Jie,Wang Chunli,Yang ShiweiORCID

Publisher

Elsevier BV

Reference19 articles.

1. A novel homozygous YARS2 mutation in two Italian siblings and a review of literature;Ardissone;JIMD Rep.,2015

2. A case of mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2 with the onset of anemia;Binghua;CMCR,2022

3. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS;Bonnefond;Biochemistry,2005

4. Mitochondrial diseases and cardiomyopathies;Brunel-Guitton;Canada JournalCardiol.,2015

5. Two novel variants in YARS2 gene are responsible for an extended MLASA phenotype with pancreatic insufficiency;Carreño-Gago;J. Clin. Med.,2021

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