Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. [electronic resource]
Producer: 20120111Description: S299-302 p. digitalISSN:- 1573-2665
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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