P.4.5 Muscle NMR imaging in the rare E650K mutation in the DNM2 gene in a centronuclear myopathy patient

Neuromuscular Disorders - Tập 23 - Trang 761 - 2013
M. Vainzof1, P. Calyjur1, M.C.G. Otaduy2, C.F. Almeida1, A. Martins-Bach1, R.Y. Carlier3, J. Gurgel-Giannetti4, E. Amaro2, P.G. Carlier3
1Human Genome Research Center, Institute of Biosciences, University of São Paulo, Genetics and Evolutionary Biology, São Paulo, Brazil
2InRad-Hospital das Clínicas, Faculty of Medicine of the University of São Paulo, Magnetic Resonance, São Paulo, Brazil
3Institute of Myology, AIM & CEA NMR Laboratory, Paris, France
4Pediatric Neurology Service, Medical School, Universidade Federal de Minas Gerais, Pediatrics, Belo Horizonte, Brazil