Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families - 13/06/23
, M. Tazir a, C. Magnouche b, D. Sternberg c, S. Belarbi b, B. Eymard d, L. Ali Pacha aAbstract |
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.
Le texte complet de cet article est disponible en PDF.Keywords : COLQ, Synaptic, Congenital, Myasthenia, Phenotypes
Plan
Vol 179 - N° 6
P. 570-575 - juin 2023 Retour au numéro
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