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Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia.
- Source :
-
Italian journal of neurological sciences [Ital J Neurol Sci] 1988 Feb; Vol. 9 (1), pp. 65-71. - Publication Year :
- 1988
-
Abstract
- We report a new case of MERRF (myoclonus epilepsy with ragged red fibers) syndrome with basal nuclei calcification on the brain CT scan, without hormonal abnormalities, with high CSF protein and hyperlactacidemia, juvenile onset and death at 18 years. Biochemical study of mitochondrial muscle enzymes showed decreased NADH-cytochrome-C-reductase and Succinate-cytochrome C-reductase activity, suggesting a Complex III defect of the respiratory chain. Similar reported cases are reviewed.
- Subjects :
- Adolescent
Basal Ganglia Diseases enzymology
Calcinosis enzymology
Calcinosis pathology
Epilepsy enzymology
Humans
Lactic Acid
Male
Mitochondria, Muscle enzymology
Myoclonus enzymology
NADH Dehydrogenase metabolism
Basal Ganglia Diseases pathology
Epilepsy pathology
Lactates blood
Mitochondria, Muscle ultrastructure
Myoclonus pathology
Subjects
Details
- Language :
- English
- ISSN :
- 0392-0461
- Volume :
- 9
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Italian journal of neurological sciences
- Publication Type :
- Academic Journal
- Accession number :
- 3356526
- Full Text :
- https://doi.org/10.1007/BF02334410