A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

doi:10.1007/s00415-018-8736-8

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Article

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

Journal of neurology - 1 Mar 2018

Estephan Eduardo de Paula, Sobreira Cláudia Ferreira da Rosa, Dos Santos André Clériston José, Tomaselli Pedro José, Marques Wilson, Ortega Roberta Paiva Magalhães, Costa Marcela Câmara Machado, da Silva André Macedo Serafim, Mendonça Rodrigo Holanda, Caldas Vitor Marques, Zambon Antonio Alberto, Abath Neto Osório, Marchiori Paulo Eurípedes, Heise Carlos Otto, Reed Umbertina Conti, Azuma Yoshiteru, Töpf Ana, Lochmüller Hanns, Zanoteli Edmar

Abstract excerpt

The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study found the c.130dupG CHRNE mutation in up to 33% of families with CMS. Here, we aimed to verify the frequency of this mutation among individuals with CMS in a larger cohort of CMS patients...

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Identifiers

PMID: 29383513
DOI: 10.1007/s00415-018-8736-8
PMCID: PMC7115868

Genes

CHRNE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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