| 1 | PGBM1, RBCK1 |
| Polyglucosan storage myopathies. | |
| Hedberg-Oldfors C, Oldfors A. | |
| Mol Aspects Med 46:85-100. doi: 10.1016/j.mam.2015.08.006. Epub 2015 Aug 13. Review. 2015 | |
| 2 | PGBM1 |
| Familial polyglucosan body myopathy with unusual phenotype. | |
| Fanin M, Nascimbeni AC, Savarese M, Papa V, Cenacchi G, Nigro V, Angelini C. | |
| Neuropathol Appl Neurobiol 41(3):385-90. doi: 10.1111/nan.12171. No abstract available. 2015 | |
| 3 | PGBM1, RBCK1 |
| Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. | |
| Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Dávila López M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A. | |
| Ann Neurol 74(6):914-9. doi: 10.1002/ana.23963. 2013 | |
| 4 | PGBM1, RBCK1 |
| Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. | |
| Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israël L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debré M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israël A, Casanova JL, Picard C. | |
| Nat Immunol 13(12):1178-86. doi: 10.1038/ni.2457. Epub 2012 Oct 28. 2012 | |