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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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