title: Mitochondrial disease: genetics and management.
abstract: Mitochondrial disease is one of the most common groups of genetic diseases with a minimum prevalence of greater than 1 in 5000 in adults. Whilst multi-system involvement is often evident, neurological manifestation is the principal presentation in most cases. The multiple clinical phenotypes and the involvement of both the mitochondrial and nuclear genome make mitochondrial disease particularly challenging for the clinician. In this review article we cover mitochondrial genetics and common neurological presentations associated with adult mitochondrial disease. In addition, specific and supportive treatments are discussed.
authors: Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
authors: Yi Shiau
authors: YS
authors: Ng
authors: Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK. doug.turnbull@ncl.ac.uk.
authors: Doug M
authors: DM
authors: Turnbull
mesh_terms: D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy*
keywords: Acute and chronic neurological presentations; Mitochondrial DNA (mtDNA); Mitochondrial disease; Nuclear genes; Treatment