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The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
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. Eisenberg I, et al. Among authors: grabov nardini g. Nat Genet. 2001 Sep;29(1):83-7. doi: 10.1038/ng718. Nat Genet. 2001. PMID: 11528398
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
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. Eisenberg I, et al. Among authors: grabov nardini g. Hum Mutat. 2003 Jan;21(1):99. doi: 10.1002/humu.9100. Hum Mutat. 2003. PMID: 12497639
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.
Argov Z, Eisenberg I, Grabov-Nardini G, Sadeh M, Wirguin I, Soffer D, Mitrani-Rosenbaum S. Argov Z, et al. Among authors: grabov nardini g. Neurology. 2003 May 13;60(9):1519-23. doi: 10.1212/01.wnl.0000061617.71839.42. Neurology. 2003. PMID: 12743242