Articulo
Congenital myasthenic syndrome due to dok7 mutations in a family from chile
Fecha
2017Registro en:
1151383
WOS:000416713900006
Institución
Resumen
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