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MERRF and Kearns-Sayre overlap syndrome due to the mtDNA m.3291T>C mutation
A 48-year-old man presented with a complex phenotype of myoclonus epilepsy with ragged-red fibers (MERRF) syndrome and Kearns-Sayre syndrome (KSS): progressive myoclonus epilepsy, cerebellar ataxia, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopathy, bifascicular heart block,...
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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2011
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3197731/ https://ncbi.nlm.nih.gov/pubmed/21996807 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.22149 |
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