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Non-specific accumulation of glycosphingolipids in GNE myopathy

✍ Scribed by Patzel, Katherine A.; Yardeni, Tal; Le Poëc-Celic, Erell; Leoyklang, Petcharat; Dorward, Heidi; Alonzi, Dominic S.; Kukushkin, Nikolay V.; Xu, Bixue; Zhang, Yongmin; Sollogoub, Matthieu; Blériot, Yves; Gahl, William A.; Huizing, Marjan; Butters, Terry D.


Book ID
125356697
Publisher
Springer
Year
2013
Tongue
English
Weight
967 KB
Volume
37
Category
Article
ISSN
0141-8955

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Hereditary Inclusion Body Myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult onset and a typical muscle pathology. We have recently identified the gene encoding for a bifunctional enzyme, UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamine kinase (GNE), as the mu