What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R
Brain. 2012 135 (Pt 12): 3614-26

PMID: 23250882 · PMCID: PMC3525059 · DOI:10.1093/brain/aws298

MeSH Terms (26)

Adolescent Adult Age of Onset Alanine Child Cohort Studies Diffuse Cerebral Sclerosis of Schilder DNA-Directed DNA Polymerase DNA Mutational Analysis DNA Polymerase gamma Europe Family Health Female Genetic Predisposition to Disease Homozygote Humans Male Middle Aged Mitochondrial Diseases Muscle, Skeletal Mutation Ophthalmoplegia, Chronic Progressive External Statistics, Nonparametric Statistics as Topic Threonine Young Adult

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