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

CONCLUSION: The p.Gln279Pro was detected in the KxGQ motif and the QKE triplet of the COQ8A protein, whose structures were crucial for the structure and function of the COQ8A protein associated with the biosynthesis of coenzyme Q10 and the proband's clinical symptoms were relatively milder than those previously reported. PMID: 32553579 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32553579?dopt=Abstract

Source: Clinical Biochemistry - June 13, 2020 Category: Biochemistry Authors: Liu G, Ma D, Li J, Luo C, Sun Y, Zhang J, Hu P, Tang W, Xu Z Tags: Clin Biochem Source Type: research

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