Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1
Version of Record online: 21 JAN 2014
© 2014 The Authors. Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association.
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Annals of Neurology
Volume 74, Issue 6, pages 914–919, December 2013
How to Cite
Nilsson, J., Schoser, B., Laforet, P., Kalev, O., Lindberg, C., Romero, N. B., Dávila López, M., Akman, H. O., Wahbi, K., Iglseder, S., Eggers, C., Engel, A. G., DiMauro, S. and Oldfors, A. (2013), Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol., 74: 914–919. doi: 10.1002/ana.23963
- Issue online: 21 JAN 2014
- Version of Record online: 21 JAN 2014
- Accepted manuscript online: 24 JUN 2013 10:18AM EST
- Manuscript Accepted: 7 JUN 2013
- Manuscript Revised: 20 MAY 2013
- Manuscript Received: 15 APR 2013
- Swedish Research Council. Grant Number: 7122
Additional Supporting Information may be found in the online version of this article.
Supplementary Fig 1 Morphological alterations in muscle of patient AII:2 as revealed by different techniques. The inclusions are stained lightly by Gomori trichrome (Panel A) and unstained by NADH-tetrazolium reductase but surrounded by a dense rim (Panel B). By immunohistochemistry, the inclusions stain positively with antibodies to desmin (Panel C; Anti-Human Desmin, D33, DakoCytomation) and p62/sequestosome-1 (Panel D; SQSTM1, D-3, Santa Cruz Biotechnology). In the right part of panel E electron microscopy demonstrates a polyglucosan body (pg) with variable structure and electron density. In the left part of panel E myofibrils (mf), normal glycogen particles (g) and mitochondria (m) are seen.
Supplementary Fig 2 Schematic illustration of the coding regions of the gene RBCK1. The exon boundaries are indicated with dotted lines and detected mutations are marked in red (Accession number NM_031229). UBL, Ubiquitin-Like domain; NZF, Npl4 type zinc-finger domain; RING, Really Interesting New Gene; IBR, In-Between-RING.
Supplementary Table 1 Genomic PCR primers for RBCK1
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