Condition: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)


rs1025361623 in COLQ gene and ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) PMID 10665486 2000 The spectrum of mutations causing end-plate acetylcholinesterase deficiency.

PMID 11865139 2002 Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

PMID 9758617 1998 Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).

PMID 24938146 2014 Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.

PMID 25557462 2015 Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.

PMID 14702351 2004 C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse.

PMID 21952943 2011 Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.

PMID 22088788 2012 Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.

PMID 18180250 2008 Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

PMID 15248101 2004 Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.

PMID 22678886 2012 Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.

PMID 23108489 2013 Pregnancy in congenital myasthenic syndrome.