Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body 
myopathy with immunological dysfunction: expanding the genotype-phenotype 
spectrum

Krenn, Martin; Salzer, Elisabeth; Simonitsch-Klupp, Ingrid; Rath, Jakob; Wagner, Matias; Haack, Tobias B.; Strom, Tim M.; Schänzer, Anne; Kilimann, Manfred W.; Schmidt, Ralf L.J.; Schmetterer, Klaus G.; Zimprich, Alexander; Boztug, Kaan; Hahn, Andreas; Zimprich, Fritz

doi:10.1007/s00415-017-8710-x

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Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum

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Kilimann, Manfred W.
Molecular neurobiology, Max Planck Institute of Experimental Medicine, Max Planck Society;

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Krenn, M., Salzer, E., Simonitsch-Klupp, I., Rath, J., Wagner, M., Haack, T. B., et al. (2018). Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum. Journal of Neurology, 265, 394-401. doi:10.1007/s00415-017-8710-x.

Cite as: https://hdl.handle.net/21.11116/0000-0000-CD95-1

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