Article
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.
Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2013
Nesbitt Victoria, Pitceathly Robert D S, Turnbull Doug M, Taylor Robert W, Sweeney Mary G, Mudanohwo Ese E, Rahman Shamima, Hanna Michael G, McFarland Robert
Abstract excerpt
BACKGROUND: Population-based studies suggest the m.3243A>G mutation in MTTL1 is the most common disease-causing mtDNA mutation, with a carrier rate of 1 in 400 people. The m.3243A>G mutation is associated with several clinical syndromes including mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS), maternally inherited deafness and diabetes (MIDD) and progressive external ophthalmoplegia...
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