Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy
| Autor: | Guglielmo Scarlato, Andreina Bordoni, Nicoletta Checcarelli, Giacomo P. Comi, Maurizio Moggio, Alex Papadimitriou, Allessandro Prelle, Nereo Bresolin, Gigliola Fagiolari |
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| Rok vydání: | 1994 |
| Předmět: |
Mitochondrial encephalomyopathy
Male Pathology medicine.medical_specialty Mitochondrial DNA Cytochrome-c Oxidase Deficiency Citrate (si)-Synthase Biology Mitochondrion Quadriplegia DNA Mitochondrial Polymerase Chain Reaction law.invention Electron Transport Complex IV symbols.namesake Mitochondrial myopathy law Mitochondrial Encephalomyopathies medicine Humans Creatine Kinase Polymerase chain reaction Southern blot Aged Sequence Deletion Genetics Parkinsonism Muscles NADPH Dehydrogenase NADH Dehydrogenase Parkinson Disease Middle Aged medicine.disease Mitochondria Muscle Succinate Dehydrogenase Blotting Southern Neurology Mendelian inheritance symbols Succinate Cytochrome c Oxidoreductase Female Neurology (clinical) |
| Zdroj: | Journal of the neurological sciences. 123(1-2) |
| ISSN: | 0022-510X |
| Popis: | Multiple deletions of mitochondrial DNA (mtDNA) were first identified in patients with mitochondrial encephalomyopathy with a clear mendelian inheritance. We found this genetic alteration in four atypical and sporadic cases of mitochondrial encephalomyopathy, characterized by RRF and partial COX deficiency. One patient was affected by essential hyperCPKemia, 1 by subacute onset flaccid tetraplegia and 2 by parkinsonism. Southern blot and PCR revealed mtDNA multiple deletions in muscle tissue of these patients. These findings indicate that these alterations are not confined to the families with mendelian transmission, but can be present in sporadic cases with heterogeneous phenotypic features. |
| Databáze: | OpenAIRE |
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