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Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair
The present report describes clinical variability in an affected dizygotic twin pair. Twin 1 showed classical features of the congenital myasthenic syndromes (CMS), that is, ptosis, dysphonia, asthenia and hypotonia. In twin 2, these clinical signs were less pronounced, but subtle resulting in sever...
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| Asıl Yazarlar: | , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMJ Publishing Group
2013
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3603822/ https://ncbi.nlm.nih.gov/pubmed/23365176 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-007651 |
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