Gene Locus : No gene locus
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation Congenital myasthenic syndrome associated with endplate AChE deficiency (Type Ic).No attachment to NMJ, No asymetric A12 forms Muller_2004_Neuropediatrics_35_183
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction : Endplate Acetylcholinesterase deficiency\; EAD
Interact Gene Locus : human-collq
Xenobiotic sensitivity :
Modification : Congenital myasthenic syndrome || Natural mutation
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : JULY-12-2004
Comment :
p.Thr441Lys
| 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 |