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Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

NPJ Genomic Medicine

Aug 5, 2019

Mullin Ho-Chung YuBrian Hon Yin Chung

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Abstract

Primary coenzyme Q10 deficiency-7 (COQ10D7) is a rare mitochondrial disease caused by biallelic mutations in COQ4. Here we report the largest cohort of COQ10D7 to date, with 11 southern Chinese patients confirmed with biallelic COQ4 mutations. Five of them have the classical neonatal-on...read more

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Mice, Inbred BALB C
Coenzyme Q10
Neutrophil Migration, Function
Cohort
Mitochondrial Diseases
Cardiomyopathies
COQ4 gene
South
COQ4 protein, human
Study
2
6
Paper Details
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Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

NPJ Genomic Medicine

Aug 5, 2019

Mullin Ho-Chung YuBrian Hon Yin Chung

PMID: 31396399

DOI: 10.1038/s41525-019-0091-x

Abstract

Primary coenzyme Q10 deficiency-7 (COQ10D7) is a rare mitochondrial disease caused by biallelic mutations in COQ4. Here we report the largest cohort of COQ10D7 to date, with 11 southern Chinese patients confirmed with biallelic COQ4 mutations. Five of them have the classical neonatal-on...read more

Mentioned in this Paper

Mice, Inbred BALB C
Coenzyme Q10
Neutrophil Migration, Function
Cohort
Mitochondrial Diseases
2
6
Paper Details
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