Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

(2015) Gloria Brea-Calvo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis

(2014) D. C. Lohman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

(2013) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The molecular genetics of coenzyme Q biosynthesis in health and disease

(2013) Leila N. Laredj et al.   BIOCHIMIE

A novel mutation in COQ2 leading to fatal infantile multisystem disease

(2013) Bernadette S. Jakobs et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

(2013) Tobias B. Haack et al.   MOLECULAR GENETICS AND METABOLISM

Heterogeneity of Coenzyme Q10Deficiency

(2012) Valentina Emmanuele et al.   ARCHIVES OF NEUROLOGY

Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency

(2012) L. Garcia-Corzo et al.   HUMAN MOLECULAR GENETICS

Coenzyme Q – Biosynthesis and functions

(2010) Magnus Bentinger et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

(2010) Luis C. López et al.   PLoS One

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

(2009) Andrew J. Duncan et al.   AMERICAN JOURNAL OF HUMAN GENETICS