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

• Main Authors: Jorge A. Bevilacqua (Author), Marian Lara (Author), Jorge Díaz (Author), Mario Campero (Author), Jessica Vászquez (Author), Ricardo A. Maselli (Author)
• Format: Book
• Published: PAGEPress Publications, 2017-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...