A novel COQ8A missense variant associated with a mild form of primary coenzyme Q10 deficiency type 4-Reference-Cited by-同舟云学术

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A novel COQ8A missense variant associated with a mild form of primary coenzyme Q10 deficiency type 4

Published:2020-10 Issue: Volume:84 Page:93-98
ISSN:0009-9120
Container-title:Clinical Biochemistry
language:en
Short-container-title:Clinical Biochemistry

Author:

Liu Gang,Ma Dingyuan,Li Jiahuang,Luo Chunyu,Sun Yun,Zhang Jingjing,Hu Ping,Tang Wenwei,Xu Zhengfeng

Funder

National Natural Science Foundation of China

National Key R&D Program of China

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference31 articles.

1. The molecular genetics of coenzyme Q biosynthesis in health and disease;Laredj;Biochimie,2014

2. Clinical presentations of coenzyme q10 deficiency syndrome;Quinzii;Mol. Syndromol.,2014

3. The clinical maze of mitochondrial neurology, Nature reviews;DiMauro;Neurology,2013

4. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency;Lagier-Tourenne;Am. J. Human Genet.,2008

5. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures;Mollet;Am. J. Human Genet.,2008

Cited by 6 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. Understanding coenzyme Q;Physiological Reviews;2024-10-01

2. Ataxia due to a COQ8A Novel Variant in Primary Coenzyme Q10 Deficiency;Movement Disorders Clinical Practice;2023-08

3. Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature;Clinical Medicine Insights: Case Reports;2023-01

4. Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency;Journal of Clinical Laboratory Analysis;2022-11-28

5. COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency;Metabolites;2022-10-08

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