Hereditary Inclusion Body Myopathy (HIBM2)

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...

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Bibliografske podrobnosti
Main Authors: Jay, Chris M., Levonyak, Nick, Nemunaitis, Gregory, Maples, Phillip B., Nemunaitis, John
Format: Artigo
Jezik:Inglês
Izdano: Libertas Academica 2009
Teme:
Review
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2796972/
https://ncbi.nlm.nih.gov/pubmed/20054407
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