Article
Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement.
Neuropathology and applied neurobiology - 1 Aug 2006
Betts J, Jaros E, Perry R H, Schaefer A M, Taylor R W, Abdel-All Z, Lightowlers R N, Turnbull D M
Abstract excerpt
Mitochondrial DNA (mtDNA) disease is an important genetic cause of neurological disability. A variety of different clinical features are observed and one of the most common phenotypes is MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes). The majority of patients with MELAS have the 3243A>G mtDNA mutation. The neuropathology is dominated by multifocal infarct-like lesions in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.