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 |