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Article

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

Arquivos de neuro-psiquiatria - 1 Jan 2022

Lorenzoni Paulo José, Ducci Renata Dal-Pra, Arndt Raquel Cristina, Hrysay Nyvia Milicio Coblinski, Fustes Otto Jesus Hernandez, Töpf Ana, Lochmüller Hanns, Werneck Lineu Cesar, Kay Cláudia Suemi Kamoi, Scola Rosana Herminia

Abstract excerpt

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...

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Identifiers

PMID: 34932651
DOI: 10.1590/0004-282X-ANP-2020-0575
PMCID: PMC9651496

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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