Article
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Brain : a journal of neurology - 1 Mar 2008
Mihaylova Violeta, Müller Juliane S, Vilchez Juan J, Salih Mustafa A, Kabiraj Mohammad M, D'Amico Adele, Bertini Enrico, Wölfle Joachim, Schreiner Felix, Kurlemann Gerhard, Rasic Vedrana Milic, Siskova Dana, Colomer Jaume, Herczegfalvi Agnes, Fabriciova Katarina, Weschke Bernhard, Scola Rosana, Hoellen Friederike, Schara Ulrike, Abicht Angela, Lochmüller Hanns
Abstract excerpt
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (COLQ) cause synaptic basal-lamina associated CMS with end-plate AChE deficiency. Here we present the clinical and molecular genetic findings of 22 COLQ-mutant CMS patients, carrying...
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