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

Ítems similars

• COLQ-Mutant Congenital Myasthenic Syndromes
  per: J Gordon Millichap
  Publicat: (2008-03-01)
• Acetylcholinesterase Associates Differently with Its Anchoring Proteins ColQ and PRiMA
  per: Noureddine, Hiba, et al.
  Publicat: (2008)
• The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein
  per: Laforgia, Nicola, et al.
  Publicat: (2020)
• Collagen-tailed and hydrophobic components of acetylcholinesterase in Torpedo marmorata electric organ.
  per: Bon, S, et al.
  Publicat: (1980)
• Molecular architecture of acetylcholinesterase collagen-tailed forms; construction of a glycolipid-tailed tetramer.
  per: Duval, N, et al.
  Publicat: (1992)