DOK7 congenital myasthenic syndrome responsive to oral salbutamol.

Autor: Tayade, K, Salunkhe, M, Agarwal, A, Radhakrishnan, D M, Srivastava, A K
Předmět:
Zdroj: QJM: An International Journal of Medicine; May2022, Vol. 115 Issue 5, p323-324, 2p
Abstrakt: Graph: Figure 1. class="chapter-para">Bilateral ptosis before treatment (A) and improvement after treatment (B). Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. Learning points for clinicians Consider congenital myasthenic syndrome (CMS) as a differential in patients presenting with progressive proximal weakness in the teenage or early second decade. [Extracted from the article]
Databáze: Complementary Index