A family segregating lethal neonatal coenzyme Q

Authors :: Amanda C, Smith
Yoko, Ito
Afsana, Ahmed
Jeremy A, Schwartzentruber
Chandree L, Beaulieu
Erika, Aberg
Jacek, Majewski
Dennis E, Bulman
Karina, Horsting-Wethly
Diana Vermunt-de, Koning
Richard J, Rodenburg
Kym M, Boycott
Lynette S, Penney
Source :: Journal of inherited metabolic disease. 41(4)
Publication Year :: 2016
Abstract: Primary CoQ

Subjects :: Male
Mitochondrial Diseases
Muscle Weakness
Ubiquinone
Siblings
Infant, Newborn
Pregnancy
Mutation
Exome Sequencing
Humans
Acidosis, Lactic
Ataxia
Female
Autopsy
Leigh Disease

Tools