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Longitudinal Clinical Follow-up of a Large Family With the R357P Twinkle Mutation

IMPORTANCE: Autosomal dominant progressive external ophthalmoplegia due to PEO1 mutations is considered relatively benign, but no data about long-term progression of this disease have been reported. The aim of this study was to provide a 16-year clinical follow-up of autosomal dominant progressive e...

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Bibliografiske detaljer
Main Authors: Paradas, Carmen, Camaño, Pilar, Otaegui, David, Oz, Oguzhan, Emmanuele, Valentina, DiMauro, Salvatore, Hirano, Michio
Format: Artigo
Sprog:Inglês
Udgivet: 2013
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3973017/
https://ncbi.nlm.nih.gov/pubmed/24018892
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2013.3185
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