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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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Detalhes bibliográficos
Main Authors: Pavone, Piero, Praticò, Andrea Domenico, Pavone, Vito, Falsaperla, Raffaele
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2013
Assuntos:
Acesso em linha: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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