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Title:

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

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
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
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