Τόμος 8 (1994) – Τεύχος 1 – Άρθρο 3 – Επιθεώρηση Κλινικής Φαρμακολογίας και Φαρμακοκινητικής-Διεθνής Έκδοση – Volume 8 (1994) – Issue 1 – Article 3 – Epitheorese Klinikes Farmakologias και Farmakokinetikes-International Edition

Title Molecular and clinical aspects of mitochondrial diseases
Author Demetris Vassilopoulos

Clinical and Molecular Neurogenetics Unit, Department of Neurology, Athens University

Citation Vassilopoulos, D.: Molecular and clinical aspects of mitochondrial diseases: a hypothesis, Epitheorese Klin. Farmakol. Farmakokinet. 8(1): 35-46 (1994)
Publication Date Received for publication: 2 December 1993

Accepted for publication: 2 December 1993

Full Text Language English
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Keywords Mitochondrial diseases, mitochondrial DNA, clinical syndromes, MELAS syndrome, MERRF syndrome, progressive myoclonic epilepsy, EARNS SAYE syndrome, Leber’s hereditary optic atrophy, mitochondrial myopathies.
Other Terms review article
Summary The mitochondrial diseases are a clinically and biochemically heterogeneous group of inborn metabolic errors affecting the energy pathway of mitochondial metabolism. These diseases are rather uncommon, however they are increasingly recognized as important causes of disease of many systems, in the first part of the present review, the organization and genetics of mitochondrial DNA as well as some evolutionary aspects or considered, in the second part, a brief presentation of the various defects in mitochondrial metabolism and the resulting clinical features is attempted. Finally, in the third part, the most widely recognized clinical syndromes, such as MELAS, MERRF, PEO syndromes; Leber’s optic atrophy and mitochondrial myopathies are described.
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