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Rev Neurol (Paris) ; 179(6): 570-575, 2023 Jun.
Article in English | MEDLINE | ID: mdl-36764859

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.


Subject(s)
Myasthenic Syndromes, Congenital , Humans , Myasthenic Syndromes, Congenital/diagnosis , Myasthenic Syndromes, Congenital/genetics , Muscle Proteins/genetics , Mutation , Phenotype , Acetylcholinesterase/genetics
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