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Disease_by_interaction Report for: Endplate Acetylcholinesterase deficiency; EAD

Name Class
Endplate Acetylcholinesterase deficiency; EADGene_locushuman-ACHE
Comment(from OMIM) Endplate AChE deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction. Engel et al. (1977) reported a patient with a severely disabling CMS associated with endplate acetylcholinesterase deficiency. Symptoms began soon after birth with generalized weakness increased by exertion, fatigability, hyporeflexia, and no response to AChE inhibitors. In 6 patients with AChE deficiency, Ohno et al. (1998) identified 6 recessive mutations in the COLQ gene (603033.0001-603033.0006). Two of the patients had previously been reported by Engel et al. (1977) and Hutchinson et al. (1993). In affected members of a consanguineous Spanish family with EAD, Donger et al. (1998) identified a homozygous mutation in the COLQ gene (603033.0007). Shapira et al. (2002) reported 3 novel mutations in the COLQ gene in 8 patients with variable features of EAD: 1 patient was a compound heterozygote; the other 7 patients, 6 Palestinian Arabs and 1 Iraqi Jew, were all homozygous for a gly240-to-ter mutation (G240X; 603033.0010), suggesting a founder effect. The patients with the G240X mutation demonstrated phenotypic variability, including differences in age of onset, disease progression, respiratory and feeding difficulties, severity of weakness, and ophthalmoplegia.
Mutation (8)
Paper (6)

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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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