Recurrent COLQ Mutation in Congenital Myasthenic Syndrome
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health
Reference14 articles.
1. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme;Ohno;Proc Natl Acad Sci USA,1998
2. The spectrum of mutations causing end-plate acetylcholinesterase deficiency;Ohno;Ann Neurol,2000
3. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes;Mihaylova;Brain,2008
4. Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene;Müller;Neuropediatrics,2004
5. Three novel COLQ mutations and variation of phenotypic expressivity due to G240X;Shapira;Neurology,2002
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