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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...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Libertas Academica
2009
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2796972/ https://www.ncbi.nlm.nih.gov/pubmed/20054407 |