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A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy
Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations. In this study, we report a no...
Enregistré dans:
| Publié dans: | J Res Med Sci |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Medknow Publications & Media Pvt Ltd
2014
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4235102/ https://ncbi.nlm.nih.gov/pubmed/25422667 |
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