Early mitochondrial dysfunction in an infant with Alexander disease. [electronic resource]
Producer: 20061204Description: 293-6 p. digitalISSN:- 0887-8994
- Alexander Disease -- diagnosis
- Biopsy
- Brain -- pathology
- Cytochrome-c Oxidase Deficiency -- diagnosis
- Diagnosis, Differential
- Female
- Glial Fibrillary Acidic Protein -- genetics
- Humans
- Infant
- Lactic Acid -- metabolism
- Magnetic Resonance Imaging
- Mitochondria, Muscle -- pathology
- Mitochondrial Myopathies -- diagnosis
- Muscle Hypotonia -- diagnosis
- Muscle, Skeletal -- pathology
- Mutation, Missense
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Publication Type: Case Reports; Journal Article
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