Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile

Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial and proximal limb weakness, and scoliosis since childhood. Another female si...

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Detalles Bibliográficos
Autores principales: Bevilacqua, Jorge A., Lara, Marian, Díaz, Jorge, Campero, Mario, Vázquez, Jessica, Maselli, Ricardo A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5658635/
https://www.ncbi.nlm.nih.gov/pubmed/29118959
http://dx.doi.org/10.4081/ejtm.2017.6832

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5658635/
https://www.ncbi.nlm.nih.gov/pubmed/29118959
http://dx.doi.org/10.4081/ejtm.2017.6832

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