A novel compound heterozygous mutation of the MTO1 gene associated with complex oxidative phosphorylation deficiency type 10-Reference-Cited by-同舟云学术

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A novel compound heterozygous mutation of the MTO1 gene associated with complex oxidative phosphorylation deficiency type 10

Published:2021-12 Issue: Volume:523 Page:172-177
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Luo Qing^ORCID,Wen Xia,Zhou Jiahong,Chen Yang,Lv Zhiyu,Shen Xing,Liu Jinbo^ORCID

Funder

Sichuan Province Health Commission

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference23 articles.

1. Mitochondrial diseases in man and mouse;Wallace;Science (New York N.Y.),1999

2. The dimensions of primary mitochondrial disorders;Schlieben;Front. Cell Dev. Biol.,2020

3. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency;Coenen;N. Engl. J. Med.,2004

4. MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast;Baruffini;Hum. Mutation,2013

5. Identification and characterization of mouse MTO1 gene related to mitochondrial tRNA modification;Li;Biochimica et Biophysica Acta,2003

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis;Frontiers in Cell and Developmental Biology;2024-05-24

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