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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Detalles Bibliográficos
Autores principales: Argov, Zohar, Mitrani Rosenbaum, Stella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2015
Materias:
Research Report
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
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author Argov, Zohar
Mitrani Rosenbaum, Stella
author_facet Argov, Zohar
Mitrani Rosenbaum, Stella
author_sort Argov, Zohar
collection PubMed
description 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 founder mutations in certain regional clusters and are described in this review. The review also discusses some historical aspects that might be relevant to the mutational distribution.
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spelling pubmed-52406132017-01-23 GNE Myopathy: Two Clusters with History and Several Founder Mutations Argov, Zohar Mitrani Rosenbaum, Stella J Neuromuscul Dis Research Report 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 founder mutations in certain regional clusters and are described in this review. The review also discusses some historical aspects that might be relevant to the mutational distribution. IOS Press 2015-07-22 /pmc/articles/PMC5240613/ /pubmed/27858758 http://dx.doi.org/10.3233/JND-150087 Text en IOS Press and the authors. All rights reserved This article is published online with Open Access and distributed under the terms of the Creative Commons Attribution Non-Commercial License.
spellingShingle Research Report
Argov, Zohar
Mitrani Rosenbaum, Stella
GNE Myopathy: Two Clusters with History and Several Founder Mutations
title GNE Myopathy: Two Clusters with History and Several Founder Mutations
title_full GNE Myopathy: Two Clusters with History and Several Founder Mutations
title_fullStr GNE Myopathy: Two Clusters with History and Several Founder Mutations
title_full_unstemmed GNE Myopathy: Two Clusters with History and Several Founder Mutations
title_short GNE Myopathy: Two Clusters with History and Several Founder Mutations
title_sort gne myopathy: two clusters with history and several founder mutations
topic Research Report
url 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
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