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
Descripción
Sumario: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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