Congenital myasthenic syndrome

Definition:

Congenital myasthenic syndromes (CMS) are a heterogenous group of genetic disorders caused by mutations in several proteins that compose the neuromuscular junction (NMJ) apparatus on which synaptic formation and function depend. The majority are recessively inherited. The disorders of the NMJ cause weakness and fatigue.

References:

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[2]. A G Engel, et al. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet. 1996 Sep;5(9):1217-27. [Content Brief]

[3]. Akira Tsujino, et al. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. [Content Brief]

[4]. Amina Chaouch, et al. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. J Neuromuscul Dis. 2014;1(1):75-90. [Content Brief]

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[6]. Caroline Huzé, et al. Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. Am J Hum Genet. 2009 Aug;85(2):155-67. [Content Brief]

[7]. Christopher M Gomez, et al. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann Neurol. 2002 Jan;51(1):102-12. [Content Brief]

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[11]. Emily O'Connor, et al. Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. Brain. 2016 Aug;139(Pt 8):2143-53. [Content Brief]

[12]. Frédéric Chevessier, et al. MUSK, a new target for mutations causing congenital myasthenic syndrome. Hum Mol Genet. 2004 Dec 15;13(24):3229-40. [Content Brief]

[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]

[14]. H L Wang, et al. Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Nat Neurosci. 1999 Mar;2(3):226-33. [Content Brief]

[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]

[16]. Jennifer Spillane, et al. Myasthenia and related disorders of the neuromuscular junction. J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):850-7. [Content Brief]

[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]

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