Article
Brain metabolite composition in relation to cognitive function and dystrophin mutations in boys with Duchenne muscular dystrophy.
NMR in biomedicine - 1 Apr 2011
Kreis Roland, Wingeier Kevin, Vermathen Peter, Giger Elisabeth, Joncourt Franziska, Zwygart Karin, Kaufmann Franz, Boesch Chris, Steinlin Maja
Abstract excerpt
Duchenne muscular dystrophy (DMD) is a hereditary X-linked recessive disorder affecting the synthesis of dystrophin, a protein essential for structural stability in muscle. Dystrophin also occurs in the central nervous system, particularly in the neocortex, hippocampus and cerebellum. Quantitative metabolic analysis by localized (1) H MRS was performed in the cerebellum (12 patients and 15 controls) and a...
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