Title : A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome - Abicht_2002_Brain_125_1005 |
Author(s) : Abicht A , Stucka R , Schmidt C , Briguet A , Hopfner S , Song IH , Pongratz D , Muller-Felber W , Ruegg MA , Lochmuller H |
Ref : Brain , 125 :1005 , 2002 |
Abstract : |
PubMedSearch : Abicht_2002_Brain_125_1005 |
PubMedID: 11960891 |
Title : Congenital myasthenic syndromes: clinical and genetic analysis of 18 patients - Abicht_1997_Eur.J.Med.Res_2_515 |
Author(s) : Abicht A , Muller-Felber W , Fischer P , Jakob I , Kurz L , Rudel R , Mortier W , Pongratz D , Lochmuller H |
Ref : European Journal of Medical Research , 2 :515 , 1997 |
Abstract : |
PubMedSearch : Abicht_1997_Eur.J.Med.Res_2_515 |
PubMedID: 9498929 |