Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis. [electronic resource]
- Pediatric neurology Oct 2006
- 289-92 p. digital
Publication Type: Case Reports; Journal Article
0887-8994
10.1016/j.pediatrneurol.2006.05.007 doi
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