Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

de Vries, M C

Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. [electronic resource] - Journal of inherited metabolic disease Dec 2008 - S299-302 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1573-2665

10.1007/s10545-008-0871-4 doi


Biomarkers--blood
Biopsy
Child, Preschool
DNA Mutational Analysis
DNA Polymerase gamma
DNA-Directed DNA Polymerase--genetics
Diffuse Cerebral Sclerosis of Schilder--complications
Disease Progression
Fibroblasts--enzymology
Genetic Predisposition to Disease
Heterozygote
Humans
Liver--enzymology
Male
Muscle, Skeletal--enzymology
Mutation
Oxidative Phosphorylation
Pedigree
Phenotype