GNE Mutations Associated with IBM2/DMRV/HIBM/QSM, updated 8/03/2012.

Table 1 is organized by reported patient(s). Table 2 is organized by the specific mutation. Mutations are reported using “E[Exon number]:” or “I[Intron number]” followed by “p.[Protein change]” or “c.[cDNA change]” followed by codon change in parentheses.

1. Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001 Sep;29(1):83-87. PM:11528398

2. Darvish D, Vahedifar P, Huo Y. Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). Mol Genet Metab. 2002 Nov;77(3):252-256. PM:12409274

3. Tomimitsu H, Ishikawa K, Shimizu J, Ohkoshi N, Kanazawa I, Mizusawa H. Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. Neurology. 2002 Aug;59(3):451-454. PM:12177386

4. Arai A, Tanaka K, Ikeuchi T, Igarashi S, Kobayashi H, Asaka T, Date H, Saito M, Tanaka H, Kawasaki S, Uyama E, Mizusawa H, Fukuhara N, Tsuji S. A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. Ann Neurol. 2002 Oct;52(4):516-519. PM:12325084

5. Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, Ohi T, Nishimiya J, Sunohara N, Ciafaloni E, Kawai M, Aoki M, Nonaka I. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology. 2002 Dec;59(11):1689-1693. PM:12473753

6. Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, Bushby K, Castellan C, Felice K, Mendell J, Merlini L, Shilling C, Wirguin I, Argov Z, Mitrani-Rosenbaum S. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat. 2003 Jan;21(1):99. PM:12497639

7. Broccolini A, Pescatori M, D'Amico A, Sabino A, Silvestri G, Ricci E, Servidei S, Tonali PA, Mirabella M. An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene. Neurology. 2002 Dec;59(11):1808-1809. PM:12473780

8. Del Bo R, Baron P, Prelle A, Serafini M, Moggio M, Fonzo AD, Castagni M, Bresolin N, Comi GP. Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. Muscle Nerve. 2003 Jul;28(1):113-117. PM:12811782

9. Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J Hum Genet. 2002;47(2):77-79. PM:11916006

10. Vasconcelos OM, Raju R, Dalakas MC. GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. Neurology. 2002 Dec;59(11):1776-1779. PM:12473769

11. Yabe I, Higashi T, Kikuchi S, Sasaki H, Fukazawa T, Yoshida K, Tashiro K. GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. Neurology. 2003 Aug;61(3):384-386. PM:12913203

12. Tomimitsu H, Shimizu J, Ishikawa K, Ohkoshi N, Kanazawa I, Mizusawa H. Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. Neurology. 2004 May;62(9):1607-1610. PM:15136692

13. Krause S, Schlotter-Weigel B, Walter MC, Najmabadi H, Wiendl H, Muller-Hocker J, Muller-Felber W, Pongratz D, Lochmuller H. A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. Neuromuscul Disord. 2003 Dec;13(10):830-834. PM:14678807

14. Huizing M, Rakocevic G, Sparks SE, Mamali I, Shatunov A, Goldfarb L, Krasnewich D, Gahl WA, Dalakas MC. Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab. 2004 Mar;81(3):196-202. PM:14972325

15. Broccolini A, Ricci E, Cassandrini D, Gliubizzi C, Bruno C, Tonoli E, Silvestri G, Pescatori M, Rodolico C, Sinicropi S, Servidei S, Zara F, Minetti C, Tonali PA, Mirabella M. Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. Hum Mutat. 2004 Jun;23(6):632. PM:15146476

16. Amouri R, Driss A, Murayama K, Kefi M, Nishino I, Hentati F. Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy. Neuromuscul Disord. 2005 May;15(5):361-363. PM:15833430

17. Ro LS, Lee-Chen GJ, Wu YR, Lee M, Hsu PY, Chen CM. Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy. J Neurol Neurosurg Psychiatry. 2005 May;76(5):752-755. PM:15834044

18. Kim BJ, Ki CS, Kim JW, Sung DH, Choi YC, Kim SH. Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles. J Hum Genet. 2006;51(2):137-40. Epub 2005 Dec 22. PMID: 16372135

19. Fisher J, Towfighi, J, Darvish D, Simmons Z. A Case of Hereditary Inclusion Body Myopathy: 1 Patient, 2 Novel Mutations. Journal of Clinical Neuromuscular Disease. 7(4):179-184, June 2006.

20. Toriumi Y, Takusa Y, Uchiyama A, Kimura M, Sejima H, Yamaguchi S, Eda I, Nishino I, Nonaka I. Distal myopathy with rimmed vacuoles in a case of opercular syndrome. Brain Dev. 2006 Aug;28(7):458-61. Epub 2006 Feb 28. PMID: 16503389.

21. Chu CC, Kuo HC, Yeh TH, Ro LS, Chen SR, Huang CC. Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family. Clin Neurol Neurosurg. 2007 Apr;109(3):250-6. Epub 2006 Nov 13. PMID: 17098358.

22. Liewluck T, Pho-Iam T, Limwongse C, Thongnoppakhun W, Boonyapisit K, Raksadawan N, Murayama K, Hayashi YK, Nishino I, Sangruchi T. Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand. Muscle Nerve. 2006 Dec;34(6):775-8. PMID: 16810679

23. Motozaki Y, Komai K, Hirohata M, Asaka T, Ono K, Yamada M. Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy. Eur J Neurol. 2007 Sep;14(9):e14-5. No abstract available. PMID: 17718674

24. Béhin A, Dubourg O, Laforêt P, Pêcheux C, Bernard R, Lévy N, Eymard B. [Distal myopathy due to mutations of GNE gene: Clinical spectrum and diagnosis.] Rev Neurol (Paris). 2008 May;164(5):434-443. Epub 2008 Apr 15. French. PMID: 18555875 [PubMed - as supplied by publisher]

25. Saechao C, Valles-Ayoub Y, Esfandiarifard S, Haghighatgoo A, No D, Shook S, Mendell JR, Rosales-Quintero X, Felice KJ, Morel CF, Pietruska M, Darvish D. Novel GNE Mutations in Hereditary Inclusion Body Myopathy Patients of Non-Middle Eastern Descent. Genet Test Mol Biomarkers. 2010 Jan 10. PMID: 20059379

26. Voermans NC, Guillard M, Doedée R, Lammens M, Huizing M, Padberg GW, Wevers RA, van Engelen BG, Lefeber DJ. Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy. Clin Neuropathol. 2010 Mar-Apr;29(2):71-7. PMID: 20175955

27. Grandis M, Gulli R, Cassandrini D, Gazzerro E, Benedetti L, Narciso E, Nobbio L, Bruno C, Minetti C, Bellone E, Reni L, Mancardi GL, Mandich P, Schenone A. The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. Neurol Sci. 2010 Mar 19. PMID: 20300792

28. Stober A, Aleo A, Kuhl V, Bornemann A, Walter MC, Lochmüller H, Lindner A, Krause S. Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family. Neuromuscul Disord. 2010 Mar 24. PMID: 20346669

29. Nalini A, Gayathri N, Dawn R. Distal myopathy with rimmed vacuoles: Report on clinical characteristics in 23 cases. Neurol India. 2010 Mar-Apr;58(2):235-41. PMID: 20508342

30. Chai Y, Bertorini TE, McGrew FA. Hereditary inclusion-body myopathy associated with cardiomyopathy: Report of two siblings. Muscle Nerve. 2010 Nov 16. PMID: 21082694

31. Weihl CC, Miller SE, Zaidman CM, Pestronk A, Baloh RH, Al-Lozi M. Novel GNE mutations in two phenotypically distinct HIBM2 patients. Neuromuscul Disord. 2010 Dec 3. PMID: 21131200

32. Li H, Chen Q, Liu F, Zhang X, Liu T, Li W, Liu S, Zhao Y, Wen B, Dai T, Lin P, Gong Y, Yan C. Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. J Hum Genet. 2011 Feb 10. PMID: 21307865

33. Wang, Z. X., GAO, Y. Y., Zhang, Y., Bu, D. F. & Yuan, Y. Novel mutations in GNE gene in Chinese patients with Nonaka myopathy. J. Apoplexy Nerv. Dis. 23, 201–203 (2006). Not indexed in PubMed.

34. Kintarak J, Sangruchi T, Liewluck T, Kulkantrakorn K, Muengtaweepongsa S. Primary muscle diseases in Thammasat University Hospital: muscle biopsy study of 12 cases. J Med Assoc Thai. 2010 Dec;93 Suppl 7:S236-40. PMID: 21294420

35. Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB. Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. BMC Med Genet. 2011 Jun 28;12(1):87. PMID: 21708040

36. Lu XH, Pu CQ, Shi Q, Luo WJ, Li K. [GNE gene mutation analysis in 5 patients with distal myopathy with rimmed vacuoles.] Nan Fang Yi Ke Da Xue Xue Bao. 2011 Aug 20;31(8):1421-1424. Chinese. PMID: 21868336

37. Ikeda-Sakai Y, Manabe Y, Fujii D, Kono S, Narai H, Omori N, Nishino I, Abe K. Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression. Case Rep Neurol. 2012 May;4(2):120-125. Epub 2012 Jul 24. PMID: 22855677