No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation
Open Access
- 1 August 2004
- journal article
- letter
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 75 (8) , 1204-1205
- https://doi.org/10.1136/jnnp.2003.026278
Abstract
Only 50% of patients carrying the A3243G mutation have stroke-like episodes1, 2 and the reason for this clinical variability remains poorly understood. Although the percentage level of the A3243G mutation in clinically relevant tissues appears to be important, this relationship is far from clear.1 High percentage levels of the A3243G mutation in muscle are associated with stroke-like episodes, but approximately one in five patients harbouring >80% A3243G in muscle remain stroke free,1 suggesting that additional environmental and genetic factors may influence the phenotypic expression of this mutation.Keywords
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