Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2019.12.007
Abstract: Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylcholine receptor (AChR) antibody. The presence of AChR autoantibody is pathogenic and highly sensitive and specific for autoimmune myasthenia… read more here.
Keywords: presence; congenital myasthenic; myasthenic syndrome; novel pathogenic ... See more keywords
Newly discovered COLQ gene mutation and its clinical features in patients with acetyl cholinesterase deficiency.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of integrative neuroscience"
DOI: 10.3233/jin-180080
Abstract: To investigate the relationship between acetyl cholinesterase associated collagen gene (COLQ) mutation in patients with acetyl cholinesterase deficiency and its clinical characteristics. Serum and red blood cell acetyl cholinesterase from patients with acetyl cholinesterase deficiency… read more here.
Keywords: cholinesterase deficiency; patients acetyl; colq gene; acetyl cholinesterase ... See more keywords