Mitochondrial diseases: an overview of genetics, pathogenesis, clinical features and an approach to diagnosis and treatment.
J Postgrad Med
;
2000 Jul-Sep; 46(3): 224-30
Article
in English
| IMSEAR
| ID: sea-116856
ABSTRACT
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Prognosis
/
Aged
/
Female
/
Humans
/
Male
/
Aging
/
Mitochondrial Myopathies
/
Adult
/
Neurodegenerative Diseases
/
Diabetes Mellitus
Type of study:
Etiology study
/
Prognostic study
Language:
English
Journal:
J Postgrad Med
Year:
2000
Type:
Article
Similar
MEDLINE
...
LILACS
LIS