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
Awarded by University of Antwerp
Awarded by European Union
Awarded by Medical Research Council
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.