Dietary intervention rescues myopathy associated with neurofibromatosis type 1

Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with complex symptomology. In addition to a predisposition to tumors, children with NF1 can present with reduced muscle mass, global muscle weakness, and impaired motor skills, which can have a significant impact on qu...

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Veröffentlicht in:Human molecular genetics 2018-02, Vol.27 (4), p.577-588
Hauptverfasser: Summers, Matthew A, Rupasinghe, Thusitha, Vasiljevski, Emily R, Evesson, Frances J, Mikulec, Kathy, Peacock, Lauren, Quinlan, Kate G R, Cooper, Sandra T, Roessner, Ute, Stevenson, David A, Little, David G, Schindeler, Aaron
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Sprache:eng
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