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Autor:
Nina Horn, Marianne Schwartz, Thomas Rosenberg, John Vissing, Kirstine Ravn, Flemming Wibrand
Publikováno v:
Annals of Neurology. 50:540-543
Mitochondrial cytochrome b mutations have been reported to have a homogenous phenotype of pure exercise intolerance. We describe a novel mutation in the cytochrome b gene of mitochondrial DNA (A15579G) associated with a selective decrease of muscle c