| Title : Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes - |
| Author(s) : Mihaylova V , Salih MA , Mukhtar MM , Abuzeid HA , El-Sadig SM , von der Hagen M , Huebner A , Nurnberg G , Abicht A , Muller JS , Lochmuller H , Guergueltcheva V |
| Ref : Neurology , 73 :1926 , 2009 |
| PubMedID: 19949040 |
| Title : Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene - Muller_2004_Neuropediatrics_35_183 |
| Author(s) : Muller JS , Petrova S , Kiefer R , Stucka R , Konig C , Baumeister SK , Huebner A , Lochmuller H , Abicht A |
| Ref : Neuropediatrics , 35 :183 , 2004 |
| Abstract : |
| PubMedSearch : Muller_2004_Neuropediatrics_35_183 |
| PubMedID: 15248101 |