Molecular pathogenesis of hereditary inclusion body myopathies
S Krause, N Garcia-Angarita, A Aleo, S Hinderlich, MC Walter, S Mitrani-Rosenbaum, J Kim, T Hoppe, H Lochmüller · Klinische Neurophysiologie · 2009 · Heft 03
Bibliografische Angaben
Zusammenfassung
Hereditary IBM constitutes a heterogeneous group of degenerative muscle disorders, inherited in recessive (IBM2/HIBM, OMIM 600737) or dominant traits (e.g. IBMPFD, OMIM 167320). Mutations in GNE encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) cause hereditary inclusion body myopathy (HIBM). To define the role of GNE mutations in HIBM pathogenesis, GNE protein expression was analyzed. GNE protein is expressed at equal levels in HIBM patients and normal control subjects. Immunofluorescence detection of GNE did not reveal any mislocalization of GNE in skeletal muscle. We conclude that…
