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