Journal article

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

Teodora Chamova, Velina Guergueltcheva, Mariana Gospodinova, Sabine Krause, Sebahattin Cirak, Ara Kaprelyan, Lyudmila Angelova, Violeta Mihaylova, Stoyan Bichev, David Chandler, Emanuil Naydenov, Margarita Grudkova, Presian Djukmedzhiev, Thomas Voit, Oksana Pogoryelova, Hanns Lochmueller, Hans H Goebel, Melanie Bahlo, Luba Kalaydjieva, Ivailo Tournev

Neuromuscular Disorders | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2015


GNE myopathy is an autosomal-recessive disorder caused by mutations in the GNE gene, encoding the key enzyme in the sialic acid biosynthetic pathway, UDP-N-acetylglucosamine 2-epimerase/N-acetyl mannosamine kinase. We studied 50 Bulgarian Roma patients homozygous for p.I618T, an ancient founder mutation in the kinase domain of the GNE gene, dating before the Gypsy exodus from North West India. The clinical features in the Bulgarian GNE group can be described with disease onset mostly in the third decade, but in individual cases, onset was as early as 10 years of age. The majority of patients had foot drop as the first symptom, but three patients developed hand weakness first. Muscle weakness..

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University of Melbourne Researchers


Awarded by University of Antwerp

Awarded by European Union

Awarded by Medical Research Council

Funding Acknowledgements

This study was supported in part by the project "Clinical and genetic study of a novel autosomal recessive distal myopathy with onset in the anterior compartment and cardiac involvement in Gypsies", funded by a grant from Association Francaise contre les Myopathies (AFM), 2001-2003; the University of Antwerp (IWS BOF 2008 23064 grant to A.J., L.V.K, I.T.) and the Tom Wahlig Foundation, Jena (to A.J., I.T); and the project "Clinical and genetic study of distal myopathies in Bulgaria", funded by the Medical University of Sofia, 2005-2006. H.L. is supported by the European Union Seventh Framework Programme (FP7/2007-2013) under grant agreement Nos. 305444 (RD-Connect) and 305121 (Neuromics). V.G. is grateful to the Alexander von Humboldt Foundation for supporting her studies on neuromuscular disorders in Bulgaria.