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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene is the causative gene for autosomal-recessive hereditary inclusion-body myopathy (h-IBM). Two sisters affected with autosomal-recessive h-IBM were shown to be compound heterozygous for two novel GNE mutations: a large deletion involving exons 1-9, and a R162C amino acid change in the epimerase domain. This is the first deletion event observed in a GNE allele and expands the molecular pathogenesis of autosomal-recessive h-IBM.[1]

References

  1. Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. Del Bo, R., Baron, P., Prelle, A., Serafini, M., Moggio, M., Fonzo, A.D., Castagni, M., Bresolin, N., Comi, G.P. Muscle Nerve (2003) [Pubmed]
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