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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...
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| Udgivet i: | J Neuromuscul Dis |
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| Main Authors: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
IOS Press
2015
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5240613/ https://ncbi.nlm.nih.gov/pubmed/27858758 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-150087 |
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