A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9

(2018) Amanda C. Smith et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene

(2015) M. Luna-Sanchez et al.   EMBO Molecular Medicine

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

(2015) Katharina Danhauser et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy

(2013)   NEW ENGLAND JOURNAL OF MEDICINE

Progress in Ion Torrent semiconductor chip based sequencing

(2012) Barry Merriman et al.   ELECTROPHORESIS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

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