Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum - Martin Krenn, Elisabeth Salzer, Ingrid Simonitsch-Klupp, Jakob Rath, Matias Wagner, Tobias B. Haack, Tim M. Strom, Anne Schänzer, Manfred W. Kilimann, Ralf L. J. Schmidt, Klaus G. Schmetterer, Alexander Zimprich, Kaan Boztug, Andreas Hahn, Fritz Zimprich - Dissemin

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Springer Verlag, Journal of Neurology, 2(265), p. 394-401

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

Journal article published in 2017 by Martin Krenn, Elisabeth Salzer, Ingrid Simonitsch-Klupp, Jakob Rath

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, Matias Wagner, Tobias B. Haack, Tim M. Strom, Anne Schänzer, Manfred W. Kilimann, Ralf L. J. Schmidt, Klaus G. Schmetterer, Alexander Zimprich, Kaan Boztug, Andreas Hahn, Fritz Zimprich

This paper is made freely available by the publisher.

This paper is made freely available by the publisher.

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