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Mitochondrial diseases: an overview of genetics, pathogenesis, clinical features and an approach to diagnosis and treatment.
N Singhal, BS Gupta, R Saigal, J Makkar, R Mathur
Department of Medicine, SMS Medical College, Jaipur, India., India
Correspondence Address:
N Singhal
Department of Medicine, SMS Medical College, Jaipur, India.
India
Defects in structures or functions of mitochondria, mainly involving the oxidative phosphorylation, mitochondrial biogenesis and other metabolic pathways have been shown to be associated with a wide spectrum of clinical phenotypes. The ubiquitous nature of mitochondria and their unique genetic features contribute to the clinical, biochemical and genetic heterogenecity of mitochondrial diseases. This article focuses on the recent advances in the field of mitochondrial disorders with respect to the consequences for an advanced clinical and genetic diagnostics. In addition, an overview on recently identified genetic defects and their pathogenic molecular mechanisms are given.
How to cite this article:
Singhal N, Gupta B S, Saigal R, Makkar J, Mathur R. Mitochondrial diseases: an overview of genetics, pathogenesis, clinical features and an approach to diagnosis and treatment. J Postgrad Med 2000;46:224-30
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How to cite this URL:
Singhal N, Gupta B S, Saigal R, Makkar J, Mathur R. Mitochondrial diseases: an overview of genetics, pathogenesis, clinical features and an approach to diagnosis and treatment. J Postgrad Med [serial online] 2000 [cited 2023 Jan 26 ];46:224-30
Available from: https://www.jpgmonline.com/article.asp?issn=0022-3859;year=2000;volume=46;issue=3;spage=224;epage=30;aulast=Singhal;type=0 |
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