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Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ 10 deficiency: An underdiagnosed cause of mitochondriopathy.

Tsz-Ki Ling,Chun-Yiu Law, Kin-Wing Yan,Nai-Chung Fong,Ka-Chung Wong, Ka-Lok Lee,Winnie Chiu-Wing Chu,Gloria Brea-Calvo,Ching-Wan Lam

Clinica Chimica Acta（2019）

Cited 11|Views37
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Abstract
Based on the population data and our case series, COQ4-related mitochondriopathy is likely an underrecognized condition. We recommend including the COQ4 c.370G > A variant as a part of the screening process for mitochondriopathy in Chinese populations.
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Key words
COQ4,Clinical whole-exome sequencing.,Mitochondriopathy.,Common mutation.
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