ArticleAmerican journal of human genetics1998
Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 160 citations in OpenAlex.
- Pharmacological Treatments for Congenital Myasthenic Syndromes Caused byCurrent neuropharmacology · 2023Pooled it
- Gene-specific response to muscle specific kinase agonist antibody in the treatment of congenital myasthenic syndromes.Brain communications · 2026Article
- An α7 nicotinic and GABAThe Journal of physiology · 2025Article
- Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.International journal of molecular sciences · 2023Article
- Expression assay of theClinical case reports · 2023Article
- COLQ-related congenital myasthenic syndrome: An integrative view.Neurogenetics · 2023Article
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- First characterization of congenital myasthenic syndrome type 5 in North Africa.Molecular biology reports · 2021Article
- Review
- Article
- Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome.Human molecular genetics · 2019Article
- The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes.Human molecular genetics · 2018Article
- Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes.International journal of molecular sciences · 2018Review
- Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.Neuromuscular disorders : NMD · 2018Article
- Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors.Chemical research in toxicology · 2016Review
- Neuromuscular Junction Impairment in Amyotrophic Lateral Sclerosis: Reassessing the Role of Acetylcholinesterase.Frontiers in molecular neuroscience · 2016Review
- Rescue and Stabilization of Acetylcholinesterase in Skeletal Muscle by N-terminal Peptides Derived from the Noncatalytic Subunits.The Journal of biological chemistry · 2015Article
- Collagen Q--a potential target for autoantibodies in myasthenia gravis.Journal of the neurological sciences · 2015Article
- Congenital myasthenic syndromes: Natural history and long-term prognosis.Annals of Indian Academy of Neurology · 2013Article
- Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis.Chemico-biological interactions · 2013Article
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Authors and funding
11 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital myasthenic syndrome (CMS) with end-plate acetylcholinesterase (AChE) deficiency is a rare autosomal recessive disease, recently classified as CMS type Ic (CMS-Ic). It is characterized by onset in childhood, generalized weakness increased by exertion, refractoriness to anticholinesterase drugs, and morphological abnormalities of the neuromuscular junctions (NMJs). The collagen-tailed form of AChE, which is normally concentrated at NMJs, is composed of catalytic tetramers associated with a specific collagen, COLQ. In CMS-Ic patients, these collagen-tailed forms are often absent. We studied a large family comprising 11 siblings, 6 of whom are affected by a mild form of CMS-Ic. The muscles of the patients contained collagen-tailed AChE. We first excluded the ACHE gene (7q22) as potential culprit, by linkage analysis; then we mapped COLQ to chromosome 3p24.2. By analyzing 3p24.2 markers located close to the gene, we found that the six affected patients were homozygous for an interval of 14 cM between D3S1597 and D3S2338. We determined the COLQ coding sequence and found that the patients present a homozygous missense mutation, Y431S, in the conserved C-terminal domain of COLQ. This mutation is thought to disturb the attachment of collagen-tailed AChE to the NMJ, thus constituting the first genetic defect causing CMS-Ic.
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