Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations.

ABSTRACT:

Background

Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various proteins. Mutation in the collagen-like tail subunit of asymmetric acetylcholinesterase (COLQ) is the second-most common cause of CMS. However, data on pharmacological treatments are limited.

Objective

In this study, we reviewed related reports to determine the most appropriate pharmacological strategy for CMS caused by COLQ mutations. A literature review and meta-analysis were also performed. PubMed, MEDLINE, Web of Science, and Cochrane Library databases were searched to identify studies published in English before July 22, 2022.

Results

A total of 42 studies including 164 patients with CMS due to 72 different COLQ mutations wer

SUBMITTER: Shao S 

PROVIDER: S-EPMC10472815 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature