Title : Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation - Sieb_2000_Ann.Neurol_48_379 |
Author(s) : Sieb JP , Kraner S , Schrank B , Reitter B , Goebel TH , Tzartos SJ , Steinlein OK |
Ref : Annals of Neurology , 48 :379 , 2000 |
Abstract : |
PubMedSearch : Sieb_2000_Ann.Neurol_48_379 |
PubMedID: 10976646 |