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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...
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| Publicat a: | J Res Med Sci |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Medknow Publications & Media Pvt Ltd
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4235102/ https://ncbi.nlm.nih.gov/pubmed/25422667 |
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