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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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Main Authors: | , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2013
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Assuntos: | |
Acesso em linha: | 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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