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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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| Glavni autori: | , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Libertas Academica
2009
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2796972/ https://ncbi.nlm.nih.gov/pubmed/20054407 |
| Oznake: |
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