Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis.

ABSTRACT:

Background

Congenital myasthenic syndromes (CMS) have some phenotypic overlap with seronegative myasthenia gravis (SNMG).

Objective

The aim of this single center study was to assess the minimum occurrence of CMS misdiagnosed as double SNMG in a Brazilian cohort.

Methods

The genetic analysis of the most common mutations in CHRNE, RAPSN, and DOK7 genes was used as the main screening tool.

Results

We performed genetic analysis in 22 patients with a previous diagnosis of 'double' SNMG. In this study, one CMS patient was confirmed due to the presence of compound heterozygous variants in the CHRNE gene (c.130insG/p.Cys210Phe).

Conclusions

This study confirmed that CMS due to CHNRE mutations can be mistaken for SNMG. In addition, our study estimated the prevale

SUBMITTER: Lorenzoni PJ 

PROVIDER: S-EPMC9651496 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature