Hereditary disorders including mitochondrial diseases.
Correlation between mitochondrial DNA (mtDNA) mutations and biochemical defects associated with several mitochondrial disorders is now possible using cybrid fusions. An understanding of the clinical heterogeneity of many inherited disorders may begin from the observation that different manifestations parallel different mutations in the same gene and, consequently, different activities of the aberrant enzyme in the body.
Lightowlers
R N
RN
Department of Clinical Neuroscience, Medical School, University of Newcastle upon Tyne, UK.
D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D003937:Diagnosis, Differential; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008931:Mitochondria, Muscle / Q000502:physiology*; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome