COLQ-related congenital myasthenic syndrome: An integrative view
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10048-023-00719-7.pdf
Reference56 articles.
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2. Parr JR, Andrew MJ, Finnis M, Beeson D, Vincent A, Jayawant S (2014) How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia. Arch Dis Child 99:539–542
3. Engel AG, Sine SM (2005) Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol 5:308–321
4. Guven A, Demirci M, Anlar B (2012) Recurrent COLQ mutation in congenital myasthenic syndrome. Pediatr Neurol 46:253–256
5. Mroczek M, Zafeiriou D, Gurgel-Gianetti J, Morais V, de Azevedo B, Roos A, Bartels E et al (2021) Three individuals with PURA syndrome in a cohort of patients with neuromuscular disease. Neuropediatrics 52:390–393
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