Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene

BACKGROUND/AIMS: To determine the genetic basis of myotonia congenita (MC) and strabismus in a large Caucasian family. METHODS: Seven patients making up four generations of a family with MC and strabismus were recruited. All patients had at least one standard ophthalmic examination, including best-c...

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Detalhes bibliográficos
Main Authors: Du, H, Grob, S R, Zhao, L, Lee, J, El-Sahn, M, Hughes, G, Luo, J, Schaf, K, Duan, Y, Quach, J, Wei, X, Shaw, P, Granet, D, Zhang, K
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
Assuntos:
Clinical Study
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3420053/
https://ncbi.nlm.nih.gov/pubmed/22653516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2012.80
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