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