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Article

COLQ-related congenital myasthenic syndrome: An integrative view.

Neurogenetics - 1 Jul 2023

Eshaghian Tina, Rabbani Bahareh, Badv Reza Shervin, Mikaeeli Sahar, Gharib Behdad, Iyadurai Stanley, Mahdieh Nejat

Abstract excerpt

Congenital myasthenic syndromes are inherited disorders caused by mutation in components of the neuromuscular junction and manifest early in life. Mutations in COLQ gene result in congenital myasthenic syndrome. Here, we present the analysis of data from 209 patients from 195 unrelated families highlighting genotype-phenotype correlation. In addition, we describe a COLQ homozygous variant a new patient and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37231228
DOI: 10.1007/s10048-023-00719-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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