Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports.

ABSTRACT:

Background

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of neuromuscular disorders. Mutations of the nicotinic acetylcholine receptor epsilon subunit gene (CHRNE) are the most common causes of these disorders. CMSs are gaining increasing recognition by clinicians. However, pharmacological treatment of CMS with CHRNE mutations has only been discussed in a small number of case reports.

Objective

This study aims to determine how to choose an appropriate pharmacological strategy for CMS with CHRNE mutations.

Methods

A meta-analysis was performed. PubMed, MEDLINE, Web of Science, and Cochrane Library databases were searched for studies published in English prior to June 1, 2020. The extracted data included clinical information, gene mutations, pharmacol

SUBMITTER: Huang K 

PROVIDER: S-EPMC8573743 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature