Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum
2017 | journal article. A publication with affiliation to the University of Göttingen.
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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
Krenn, M.; Salzer, E.; Simonitsch-Klupp, I.; Rath, J.; Wagner, M.; Haack, T. B. & Strom, T. M. et al. (2017)
Journal of Neurology, 265(2) pp. 394-401. DOI: https://doi.org/10.1007/s00415-017-8710-x
Documents & Media
Details
- Authors
- 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
- Issue Date
- 2017
- Journal
- Journal of Neurology
- ISSN
- 0340-5354
- eISSN
- 1432-1459
- Language
- English
