Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.

Détails

Ressource 1Télécharger: BIB_F02C6FAA938E.P001.pdf (481.04 [Ko])
Etat: Serval
Version: Final published version
ID Serval
serval:BIB_F02C6FAA938E
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
Périodique
Neuromuscular Disorders
Auteur(s)
Wargon I., Richard P., Kuntzer T., Sternberg D., Nafissi S., Gaudon K., Lebail A., Bauche S., Hantaï D., Fournier E., Eymard B., Stojkovic T.
ISSN
1873-2364 (Electronic)
ISSN-L
0960-8966
Statut éditorial
Publié
Date de publication
2012
Peer-reviewed
Oui
Volume
22
Numéro
4
Pages
318-324
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (COlQ) cause recessive forms of synaptic CMS with end plate AChE deficiency. We present data on 15 COLQ -mutant CMS carrying 16 different mutations (9 novel ones identified) followed-up for an average period of 10 ears. The mean age at the first examination was 19 ears old (range from 3 to 48). We report relapses during short or long-term periods characterized by worsening of muscle weakness sometimes associated with respiratory crises. All the relapses ended spontaneously or with 3-4 DAP or ephedrine with no residual impairment. The triggering factors identified were esterase inhibitors, effort, puberty or pregnancy highlighting the importance of hormonal factors. There was no genotype-phenotype correlation. At the end of the follow-up, 80% of patients were ambulant and 87% of patients had no respiratory trouble in spite of severe relapses.
Mots-clé
Acetylcholinesterase/deficiency, Acetylcholinesterase/genetics, Adolescent, Adult, Child, Child, Preschool, Collagen/genetics, Collagen/metabolism, Disease Progression, Female, Follow-Up Studies, Genetic Association Studies, Humans, Male, Middle Aged, Muscle Proteins/genetics, Muscle Proteins/metabolism, Mutation/genetics, Myasthenic Syndromes, Congenital/diagnosis, Myasthenic Syndromes, Congenital/genetics, Phenotype, Recurrence, Treatment Outcome, Young Adult
Pubmed
Web of science
Open Access
Oui
Création de la notice
19/05/2012 19:52
Dernière modification de la notice
09/05/2019 3:15
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