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Article

Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.

Neuromuscular disorders : NMD - 1 Nov 2016

Natera-de Benito D, Domínguez-Carral J, Muelas N, Nascimento A, Ortez C, Jaijo T, Arteaga R, Colomer J, Vilchez J J

Abstract excerpt

Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders. Mutations in CHRNE are one of the most common cause of them and the ɛ1267delG frameshifting mutation is described to be present on at least one allele of 60% of patients with CHRNE mutations. We present a comprehensive description of the heterogeneous clinical features of the CMS caused by the homozygous 1267delG mutation in the...

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Source

Identifiers

PMID: 27634344
DOI: 10.1016/j.nmd.2016.08.005

Genes

CHRNE
DAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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