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Article

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Mar 2011

Salih Mustafa A, Oystreck Darren T, Al-Faky Yasser H, Kabiraj Mohammed, Omer Mohamed I A, Subahi Elamin M, Beeson David, Abu-Amero Khaled K, Bosley Thomas M

Abstract excerpt

We describe the clinical characteristics of 3 siblings from 1 family with congenital myasthenic syndrome due to homozygous mutations of the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE). Onset of symptoms occurred in the first few months of life with ptosis, restricted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21150643
DOI: 10.1097/WNO.0b013e3181f50bea

Genes

CHRNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21150643-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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