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. 2014 May;24(5):387-9.
doi: 10.1016/j.nmd.2014.03.004. Epub 2014 Mar 13.

GNE myopathy: new name and new mutation nomenclature

Marjan Huizing  1 , Nuria Carrillo-Carrasco  2 , May Christine V Malicdan  3 , Satoru Noguchi  4 , William A Gahl  3 , Stella Mitrani-Rosenbaum  5 , Zohar Argov  6 , Ichizo Nishino  4
Affiliations

GNE myopathy: new name and new mutation nomenclature

Marjan Huizing et al. Neuromuscul Disord. 2014 May.
No abstract available

Keywords: Distal Myopathy with Rimmed Vacuoles (DMRV); GNE Myopathy; Hereditary Inclusion Body Myopathy (HIBM); Inclusion Body Myopathy 2 (IBM2); Nonaka myopathy; Sialic acid; UDP-GlcNAc 2-epimersa/ManNAc kinase.

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Figures

Figure 1
Figure 1
Human GNE mRNA transcripts and isoforms. Structures of the two main human GNE mRNA transcripts (not to scale) and the human GNE isoforms (hGNE1 and hGNE2) are illustrated. Note that mRNA variant 1 (the longest splice form) encodes the hGNE2 protein, while mRNA variant 2 encodes the hGNE1 protein (traditionally known and studied as the sole translated GNE protein). Black boxes: open reading frame; Gray boxes: untranslated mRNA regions; White dotted lined boxes: skipped exons. Locations of selected GNE myopathy-associated mutations (see Table 1) are indicated by stars. GenBank Accession numbers and translated amino acids (aa) are provided. Modified and updated from [7].
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References

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    1. Eisenberg I, Avidan N, Potikha T, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001;29:83–7. - PubMed

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Supplementary concepts