Mitochondrial diseases: an overview of genetics, pathogenesis, clinical features and an approach to diagnosis and treatment.

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dc.contributor.authorSinghal, Nen_US
dc.contributor.authorGupta, B Sen_US
dc.contributor.authorSaigal, Ren_US
dc.contributor.authorMakkar, Jen_US
dc.contributor.authorMathur, Ren_US
dc.date.accessioned2000-07-12en_US
dc.date.accessioned2009-06-02T12:21:51Z
dc.date.available2000-07-12en_US
dc.date.available2009-06-02T12:21:51Z
dc.date.issued2000-07-12en_US
dc.description62 references.en_US
dc.description.abstractDefects 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.en_US
dc.description.affiliationDepartment of Medicine, SMS Medical College, Jaipur, India.en_US
dc.identifier.citationSinghal N, Gupta BS, Saigal R, Makkar J, Mathur R. Mitochondrial diseases: an overview of genetics, pathogenesis, clinical features and an approach to diagnosis and treatment. Journal of Postgraduate Medicine. 2000 Jul-Sep; 46(3): 224-30en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/116856
dc.language.isoengen_US
dc.source.urihttps://www.jpgmonline.comen_US
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshAging --physiologyen_US
dc.subject.meshDiabetes Mellitus --diagnosisen_US
dc.subject.meshFemaleen_US
dc.subject.meshHeart Failure --diagnosisen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMitochondria --geneticsen_US
dc.subject.meshMitochondrial Myopathies --diagnosisen_US
dc.subject.meshNeurodegenerative Diseases --diagnosisen_US
dc.subject.meshPrognosisen_US
dc.titleMitochondrial diseases: an overview of genetics, pathogenesis, clinical features and an approach to diagnosis and treatment.en_US
dc.typeJournal Articleen_US
dc.typeReviewen_US
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