Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis. [electronic resource]
Producer: 20061204Description: 289-92 p. digitalISSN:- 0887-8994
- Acidosis, Lactic -- diagnosis
- Atrophy
- Biopsy
- Blotting, Western
- Carnitine -- analogs & derivatives
- Central Nervous System Cysts -- diagnosis
- Cerebral Ventricles -- pathology
- DNA Mutational Analysis
- Diagnosis, Differential
- Electron Transport Complex I -- deficiency
- Female
- Fibroblasts -- enzymology
- Frontal Lobe -- pathology
- Humans
- Infant, Newborn
- Magnetic Resonance Imaging
- Mitochondrial Diseases -- diagnosis
- Muscle, Skeletal -- enzymology
- Nerve Fibers, Myelinated -- pathology
- Point Mutation
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Publication Type: Case Reports; Journal Article
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