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Article

A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome.

PloS one - 1 Jan 2014

Rinz Caitlin J, Levine Jonathan, Minor Katie M, Humphries Hammon D, Lara Renee, Starr-Moss Alison N, Guo Ling T, Williams D Colette, Shelton G Diane, Clark Leigh Anne

Abstract excerpt

Congenital myasthenic syndromes (CMSs) are heterogeneous neuromuscular disorders characterized by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ). CMSs are rarely encountered in veterinary medicine, and causative mutations have only been identified in Old Danish Pointing Dogs and Brahman cattle to date. Herein, we characterize a novel CMS in 2 Labrador...

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Share to Acetylcholinesterase
Share to Amino Acid Substitution

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Collagen

Share to Genetic Association Studies

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Share to Mutation, Missense

Share to Myasthenic Syndromes, Congenital

Source

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Identifiers

PMID: 25166616
DOI: 10.1371/journal.pone.0106425
PMCID: PMC4148433

Genes

COLQ

Variants

Provenance

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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