Hereditary Inclusion Body Myopathy (HIBM2)
作者： Chris M. Jay , Nick Levonyak , Gregory Nemunaitis , Phillip B. Maples , John Nemunaitis
DOI: 10.4137/GRSB.S2594
关键词:
摘要: Hereditary inclusion body myopathy type 2 (HIBM2) is a characterized by progressive muscle weakness with early adult onset. The disease the result of recessive mutation in Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene (GNE), which results reduced enzyme function and sialic acid levels. A majority individuals HIBM2 are from Iranian-Jewish or Japanese decent, but isolated cases have been identified world wide. This article reviews diagnostic criteria for HIBM2. Current research highlight on biology role GNE pathway assessed. Finally, therapeutic investigations animal models discussed focus future studies to better understand pathology Inclusion Body Myopathy move agents towards clinical trials.
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