Article
Correlative multidisciplinary approach to the study of mitochondrial encephalomyopathies.
Revue neurologique - 1 Jan 1991
Karpati G, Arnold D, Matthews P, Carpenter S, Andermann F, Shoubridge E
Abstract excerpt
Mitochondrial encephalomyopathies can be caused by defects in the mitochondrial respiratory complexes. The clinical phenotypes are quite protean but in many instances a characteristic or suggestive clinical presentation permits a tentative bedside diagnosis. The diagnosis can be verified by laboratory investigations. The major laboratory hallmarks of mitochondrial encephalomyopathies include: ragged red fibers on...
Topics
- Brain Diseases
- Electron Transport
- Humans
- Mitochondria, Muscle
- Muscular Diseases
- Pedigree
- Phenotype
