Titre :
|
Congenital myasthenic syndromes. Clinical and molecular study of 10 Algerian families (abstract : congrès international de Myologie, 2005)
|
contenu dans :
|
|
Auteurs :
|
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ;
Nouioua S ;
Sifi Y ;
Hecham N ;
Ali Pacha L ;
Richard P ;
Grid D ;
Hamri A ;
Tazir M
|
Type de document :
|
Article
|
Année de publication :
|
2005
|
Pages :
|
p. 258
|
Langues:
|
Anglais
|
Mots-clés :
|
Algérie
;
colloque
;
électromyographie
;
évolution de la maladie
;
famille
;
génétique moléculaire
;
jonction neuromusculaire
;
mutation génétique
;
ptosis
;
sous-unité epsilon du récepteur nicotinique
;
syndrome myasthénique congénital
;
transmission autosomique dominante
;
transmission autosomique récessive
;
variabilité clinique
|
Résumé :
|
Communication n° 440 Introduction : Mutations in various genes expressed at the neuromuscular junction cause congenital myasthenic syndromes (CMS). Currently their classification is physiopathological, implicating 8 genes. Post-synaptic congenital syndromes due to mutations in the AChR are the most frequent forms. II/ objective : Clinical and molecular analysis of 10 families. III/ Methods : Clinical and molecular analysis of 28 patients belonging to 10 families (6 recessive, 3 dominant and 1 sporadic patient) presenting a congenital myasthenic syndrome. IV/ Results :The 6 recessive families and the sporadic patient were harboring homozygous or heterozygous mutation in AChR subunit epsilon 1293 insG. The dominant forms were excluded for this mutation. The age of onset was between 0 and 6 years and around 30 years in one family with autosomal dominant inheritance. All patients had ptosis but the other signs and the clinical evolution were variable in the different families. Clinical heterogeneity was noticed in 1 family. The decremental electromyographic response and anticholinesterasic medication benefit, were inconstant. V/ Conclusion : AChE subunit epsilon 1293 insG mutation is frequent in this series of CMS patients and seems to be endemic in Algeria.
|