Publication:
Hereditary disorders including mitochondrial diseases (1992)
Author(s): R. N. Lightowlers
- : Hereditary disorders including mitochondrial diseases
Abstract: 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.
Notes: 0951-7383 Journal Article Review Review, Tutorial
- Short Title: Hereditary disorders including mitochondrial diseases
- Date: Jun
- Journal: Curr Opin Neurol Neurosurg
- Volume: 5
- Issue: 3
- Pages: 368-74
- Publication type: Article
- Bibliographic status: Published
- Author Address: Department of Clinical Neuroscience, Medical School, University of Newcastle upon Tyne, UK.
- URL: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=1623266
Keywords: Brain Diseases, Metabolic/diagnosis/*genetics/physiopathology Diagnosis, Differential Humans Metabolism, Inborn Errors/diagnosis/genetics/physiopathology Mitochondria, Muscle/*physiology Neuromuscular Diseases/diagnosis/*genetics/physiopathology Syndrome
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Professor Robert Lightowlers
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