AI Article Synopsis
- Congenital myasthenic syndromes (CMS) are rare genetic disorders linked to the COLQ gene, which affects synapses.
- The study investigates the clinical characteristics of three families with COLQ gene mutations, highlighting one novel mutation.
- Results emphasize the need to recognize specific phenotypic features of COLQ mutations to enhance genetic testing and understanding of the condition.
Article Abstract
Background: Congenital myasthenic syndromes (CMS) are rare genetic neuromuscular disorders. The COLQ gene encoding the collagenous subunit of the acetyl cholinesterase enzyme tail is implicated in a synaptic form of CMS (also called type 5, according to the new gene table 2020 classification).
Objective: To study the clinical phenotype of three families with COLQ gene mutations.
Methods: We report a series of three consanguineous families, with seven affected patients, carrying three different mutations of the COLQ gene, one of which has never been reported in the literature before.
Results: We studied their clinical and paraclinical phenotypes, and try to compare the three families as well as compare them with other series carrying COLQ gene mutations reported in the literature.
Conclusion: COLQ gene mutations have phenotypic particularities that must be recognized to propose appropriate genetic study.
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| http://dx.doi.org/10.1016/j.neurol.2022.09.008 | DOI Listing |
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