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

Author: Krenn, Martin; Salzer, Elisabeth; Simonitsch-Klupp, Ingrid; Rath, Jakob; Wagner, Matias; Haack, Tobias B.; Strom, Tim M.; Schaenzer, Anne; Kilimann, Manfred W.; Schmidt, Ralf L. J.; Schmetterer, Klaus G.; Zimprich, Alexander; Boztug, Kaan; Hahn, Andreas; Zimprich, Fritz
Tübinger Autor(en):
Haack, Tobias
Published in: Journal of Neurology (2018), Bd. 265, H. 2, S. 394-401
Verlagsangabe: Springer Heidelberg
Language: English
Full text: http://dx.doi.org/10.1007/s00415-017-8710-x
ISSN: 1432-1459
DDC Classifikation: 610 - Medicine and health
Dokumentart: Article
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