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Article

Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.

International journal of molecular sciences - 11 Nov 2023

Barbeau Susie, Semprez Fannie, Dobbertin Alexandre, Merriadec Laurine, Roussange Florine, Eymard Bruno, Sternberg Damien, Fournier Emmanuel, Karasoy Hanice, Martinat Cécile, Legay Claire

Abstract excerpt

Congenital Myasthenic Syndromes (CMSs) are rare inherited diseases of the neuromuscular junction characterized by muscle weakness. CMSs with acetylcholinesterase deficiency are due to pathogenic variants in COLQ, a collagen that anchors the enzyme at the synapse. The two COLQ N-terminal domains have been characterized as being biochemical and functional. They are responsible for the structure of the protein in...

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Share to Acetylcholinesterase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myasthenic Syndromes, Congenital

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Share to Receptors, Cholinergic

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Identifiers

PMID: 38003406
DOI: 10.3390/ijms242216217
PMCID: PMC10671321

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