Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.

Oglesbee, Devin

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