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GNE Myopathy: Two Clusters with History and Several Founder Mutations
GNE myopathy (previous names: HIBM, DMRV, IBM2) is a unique distal myopathy with quadriceps sparing. This recessively inherited myopathy has been diagnosed in various regions of the world with more than 150 disease-causing mutations already identified. Several of those are proven or suspected to be...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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IOS Press
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240613/ https://www.ncbi.nlm.nih.gov/pubmed/27858758 http://dx.doi.org/10.3233/JND-150087 |