Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits.

Ítems similars

• Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).
  per: Donger, C, et al.
  Publicat: (1998)
• Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?
  per: Ohno, K, et al.
  Publicat: (1999)
• Antigenic and structural differences in the catalytic subunits of the molecular forms of acetylcholinesterase.
  per: Doctor, B P, et al.
  Publicat: (1983)
• BENEFICIAL EFFECTS OF ALBUTEROL IN CONGENITAL ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY AND DOK-7 MYASTHENIA
  per: Liewluck, Teerin, et al.
  Publicat: (2011)
• The C-terminal T peptide of acetylcholinesterase enhances degradation of unassembled active subunits through the ERAD pathway
  per: Belbeoc’h, Stéphanie, et al.
  Publicat: (2003)