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

User: Guest

Document type:: Zeitschriftenaufsatz
Author(s):: 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
Title:: Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum
Journal title:: Journal of Neurology
Year:: 2017
Journal volume:: 265
Journal issue:: 2
Pages contribution:: 394-401
Fulltext / DOI:: doi:10.1007/s00415-017-8710-x
Publisher:: Springer Science and Business Media LLC
E-ISSN:: 0340-53541432-1459
Date of publication:: 19.12.2017
BibTeX

Occurrences: