Article
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
Neuromuscular disorders : NMD - 1 Sept 2015
Chamova Teodora, Guergueltcheva Velina, Gospodinova Mariana, Krause Sabine, Cirak Sebahattin, Kaprelyan Ara, Angelova Lyudmila, Mihaylova Violeta, Bichev Stoyan, Chandler David, Naydenov Emanuil, Grudkova Margarita, Djukmedzhiev Presian, Voit Thomas, Pogoryelova Oksana, Lochmüller Hanns, Goebel Hans H, Bahlo Melanie, Kalaydjieva Luba, Tournev Ivailo
Abstract excerpt
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...
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