/congenital myasthenic syndrome 5

congenital myasthenic syndrome 5

Rare Disease

MONDO:0011281

Also Known As

CMS IcCMS5COLQ congenital myasthenic syndromeEADEngel congenital myasthenic syndromecongenital myasthenic syndrome 5congenital myasthenic syndrome Engel typecongenital myasthenic syndrome caused by mutation in COLQcongenital myasthenic syndrome type 5congenital myasthenic syndrome type Icend plate acetylcholinesterase deficiencymyasthenic syndrome, congenital, type 5Cms IcCms Ic, formerlycongenital myasthenic syndrome type Ic, formerlyendplate acetylcholinesterase deficiencymyasthenic syndrome, congenital, 5myasthenic syndrome, congenital, Engel type

Definition

Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.