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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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Eur J Transl Myol
Main Authors: Bevilacqua, Jorge A., Lara, Marian, Díaz, Jorge, Campero, Mario, Vázquez, Jessica, Maselli, Ricardo A.
Format: Artigo
Jezik:Inglês
Izdano: PAGEPress Publications, Pavia, Italy 2017
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5658635/
https://ncbi.nlm.nih.gov/pubmed/29118959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4081/ejtm.2017.6832
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