Congenital myasthenic syndrome

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[8]. Clare V Logan, et al. Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. Am J Hum Genet. 2015 Dec 3;97(6):878-85. [Content Brief]

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[13]. Gina L O'Grady, et al. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology. 2016 Oct 4;87(14):1442-1448. [Content Brief]

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[15]. Jan Senderek, et al. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet. 2011 Feb 11;88(2):162-72. [Content Brief]

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[17]. Judith Cossins, et al. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain. 2013 Mar;136(Pt 3):944-56. [Content Brief]

[18]. Juliane S Müller, et al. CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. Brain. 2006 Oct;129(Pt 10):2784-93. [Content Brief]

[19]. K Ohno, et al. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci U S A. 2001 Feb 13;98(4):2017-22. [Content Brief]

[20]. K Ohno, et al. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron. 1996 Jul;17(1):157-70. [Content Brief]

[21]. K Ohno, et al. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. Proc Natl Acad Sci U S A. 1998 Aug 4;95(16):9654-9. [Content Brief]

[22]. Katsiaryna Belaya, et al. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet. 2012 Jul 13;91(1):193-201. [Content Brief]

[23]. Kinji Ohno, et al. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet. 2002 Apr;70(4):875-85. [Content Brief]

[24]. Luc Régal, et al. PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. Neurology. 2014 Apr 8;82(14):1254-60. [Content Brief]

[25]. P A Quiram, et al. Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. J Clin Invest. 1999 Nov;104(10):1403-10. [Content Brief]

[26]. Ricardo A Maselli, et al. Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence. Am J Med Genet A. 2020 Jul;182(7):1744-1749. [Content Brief]

[27]. S Brownlow, et al. Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. J Clin Invest. 2001 Jul;108(1):125-30. [Content Brief]

[28]. Stéphanie Bauché, et al. Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. Am J Hum Genet. 2016 Sep 1;99(3):753-761. [Content Brief]

[29]. Vincenzo Salpietro, et al. Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. Ann Neurol. 2017 Apr;81(4):597-603. [Content Brief]

[30]. Xin-Ming Shen, et al. Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. Neurology. 2014 Dec 9;83(24):2247-55. [Content Brief]

[31]. Zohar Argov, et al. Management of myasthenic conditions: nonimmune issues. Curr Opin Neurol. 2009 Oct;22(5):493-7. [Content Brief]