McFarland R, Hudson G, Taylor R, Green S, Hodges S, McKiernan P, et al. Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1). Arch Dis Child. 2008;93:151-3 pubmed publisher
..Sequencing of the mitochondrial polymerase gamma gene (POLG1) revealed four heterozygous substitutions, two of which have been identified in cases of Alpers-Huttenlocher disease. ..
Barends M, Verschuren L, Morava E, Nesbitt V, Turnbull D, McFarland R. Causes of Death in Adults with Mitochondrial Disease. JIMD Rep. 2016;26:103-13 pubmed publisher
..In almost half of the patients, the cause of death remained unknown. Based on our study, we present recommendations regarding the care of patients with mitochondrial disease. ..