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

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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Detaylı Bibliyografya
Asıl Yazarlar: Jorge A. Bevilacqua, Marian Lara, Jorge Díaz, Mario Campero, Jessica Vászquez, Ricardo A. Maselli
Materyal Türü: Makale
Dil:English
Baskı/Yayın Bilgisi: PAGEPress Publications 2017-09-01
Seri Bilgileri:European Journal of Translational Myology
Konular:
Myasthenic syndromes, congenital, dok-7, Electrophysiology, salbutamol, MRI
Online Erişim:http://www.pagepressjournals.org/index.php/bam/article/view/6832

Internet

http://www.pagepressjournals.org/index.php/bam/article/view/6832

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