ISSN: 1300-0381
İndekslendiği Dizinler:
Index CopernicusEMBASE/Excerpta Medica
Scopus
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Mitochondrial Diseases
E. Çağlar ÇITAK*
*Araş.Gör.Dr., Gazi Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları AD, ANKARA
Mitochondrial genetic defects were first defined in 1988. Since then, an exponential increase in the number of mitochondrial DNA abnormalities linked to a wide variety of human disorders have seen. At the last count, over 100 different mutations have been associated with disease, many of them cause profound disability and premature death. Pathogenic mitochondrial DNA defects are far more common than was previously anticipated. In this article the features of mitochondrial diseases and the most helpful investigations before discussing the management of individual patients are discussed and some of the more recent advances the treatment of mitochondrial DNA disease are mentioned, providing some hope for the future.Keywords: Mitochondria, Disease, GeneticsTurkiye Klinikleri J Pediatr 2000, 9:32-42
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