Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study
2007
Background
Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, adult onset, non-inflammatory neuromuscular disorder with no effective treatment. The causative gene, GNE, codes for UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, which catalyzes the first two reactions in the synthesis of sialic acid. Reduced sialylation of muscle glycoproteins, such as α-dystroglycan and neural cell adhesion molecule (NCAM), has been reported in HIBM.
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
56
References
44
Citations
NaN
KQI