Article
Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.
Brain : a journal of neurology - 1 Aug 2005
Kärppä Mikko, Herva Riitta, Moslemi Ali-Reza, Oldfors Anders, Kakko Sakari, Majamaa Kari
Abstract excerpt
Myopathy is a typical clinical finding among patients with the 3243A>G mutation in mitochondrial DNA (mtDNA), but the variability in such findings has not been properly established. We have previously determined the prevalence of patients with 3243A>G in a defined population in northern Finland and characterized a group of patients who represent a good approximation to a population-based cohort. We report here on...
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