Congenital myasthenic syndromes

Handbook of Clinical Neurology

Volumn 113, Issue , 2013, Pages 1469-1480

  Eymard, Bruno ^a   Hantaï, Daniel ^a   Estournet, Brigitte ^b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b RAYMOND POINCARÉ HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84876886933     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-59565-2.00016-2     Document Type: Chapter

References (83)

1. Anderson J.A., Ng J.J., Bowe C., et al. Variable phenotypes associated with mutations in DOK7. Muscle Nerve 2008, 37:448-456.
2. Banwell B.L., Russel J., Fukudome T., et al. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. J Neuropathol Exp Neurol 1999, 58:832-846.
3. Beeson D., Higuchi O., Palace J., et al. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 2006, 313:1975-1978.
4. Belaya K., Finlayson S., Slater C.R., et al. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet 2012, 91:193-201.
5. Ben Ammar A., Petit F., Alexandri N., et al. Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. J Neurol 2010, 257:754-766.
6. Ben Ammar A., Soltanzadeh P., Bauché S., et al. A mutation causes MusK reduced sensitivity to agrin and congenital myasthenia. PLoS One 2013, 8:e53826.
7. Bezakova G., Rüegg M.A. New insights in the roles of agrin. Nat Rev Mol Cell Biol 2003, 4:295-298.
8. Brownlow S., Webster R., Croxen R., et al. Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. J Clin Invest 2001, 108:125-130.
9. Byring R.F., Pihko H., Shen X.M., et al. Congenital myasthenic syndrome associated with episodic apnea and sudden infant death. Neuromuscul Disord 2002, 12:548-553.
10. Cartaud A., Coutant S., Petrucci T.C., et al. Evidence for in situ and in vitro association between β-dystroglycan and the subsynaptic 43K rapsyn protein. Consequence for acetylcholine receptor clustering at the synapse. J Biol Chem 1998, 273:11321-11326.
11. Chaouch A., Beeson D., Hantaï D., et al. 186th ENMC International Workshop: congenital myasthenic syndromes, 24-26 June 2011, Naarden, The Netherlands. Neuromuscul Disord 2012, 22:566-576.
12. Chevessier F., Faraut B., Ravel-Chapuis A., et al. MUSK, a new target for mutations causing congenital myasthenic syndrome. Hum Mol Genet 2004, 13:3229-3240.
13. Cossins J., Belaya K., Hicks D., et al. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain 2013, 136:944-956.
14. Croxen R., Newland C., Beeson D., et al. Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. Hum Mol Genet 1997, 6:767-774.
15. Croxen R., Hatton C., Shelley C., et al. Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. Neurology 2002, 59:162-168.
16. DeChiara T.M., Bowen D.C., Valenzuela, et al. The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo. Cell 1996, 85:501-512.
17. Dobkin B.H., Verity M.A. Familial neuromuscular disease with type I fiber hypoplasia, tubular aggregates, cardiomyopathy and myasthenic features. Neurology 1978, 28:1135-1140.
18. Donger C., Krejci E., Serradell P., et al. Mutation in the human acetylcholinesterase-associated gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency. Am J Hum Genet 1998, 63:967-975.
19. Engel A.G. The therapy of congenital myasthenic syndrome. Neurotherapeutics 2007, 4:252-257.
20. Engel A.G. Current status of the congenital myasthenic syndromes. Neuromuscul Disord 2012, 22:99-111.
21. Engel A.G., Sine S.M. Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol 2005, 5:308-321.
22. Engel A.G., Lambert E.H., Gomez M.R. A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. Ann Neurol 1977, 1:315-330.
23. Engel A.G., Lambert E.H., Mulder D.M., et al. A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. Ann Neurol 1982, 11:553-569.
24. Engel A.G., Ohno K., Milone M., et al. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet 1996, 5:1217-1227.
25. Engel A.G., Ohno K., Bouzat C., et al. End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. Ann Neurol 1996, 40:810-817.
26. Eymard B. Neonatal myasthenia gravis clinical and pathophysiological aspects. Advances in Organ Biology 1997, vol. 2:235-247. Elsevier. B.W. Festoff, D. Hantaï, B.A. Citron (Eds.).
27. Forrest K., Mellerio J.E., Robb S., et al. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscul Disord 2010, 20:709-711.
28. Fukudome T., Ohno K., Brengman J.M., et al. Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor. Neuroreport 1998, 9:1907-1911.
29. Gautam M., Noakes P.G., Mudd J., et al. Failure of postsynaptic specialization to develop at neuromuscular junctions in rapsyn-deficient mice. Nature 1995, 377:232-236.
30. Hamuro J., Higuchi O., Okada K., et al. Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7. J Biol Chem 2008, 283:5518-5524.
31. Harper C.M., Engel A.G., Fukudome T., et al. Treatment of slow channel congenital myasthenic syndrome with fluoxetine. Neurology 2003, 60:1710-1713.
32. Hoffmann K., Müller J.S., Megarbane A., et al. Escobar syndrome is a primary myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet 2006, 79:303-312.
33. Huzé C., Bauché S., Richard P., et al. Identification of a mutation in agrin that causes congenital myasthenia and affects synapse function. Am J Hum Genet 2009, 85:155-167.
34. Ioos C., Barois A., Richard P., et al. Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. Neuropediatrics 2004, 35:246-249.
35. Ishigaki K., Nicolle D., Krejci E., et al. Two novel mutations in the ColQ gene cause endplate acetylcholinesterase deficiency. Neuromuscul Disord 2003, 13:236-244.
36. Kim N., Stiegler A.L., Cameron T.O., et al. Lrp4 is a receptor for Agrin and forms a complex with MuSK. Cell 2008, 135:334-342.
37. Liewluck T., Selcen D., Engel A.G. Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. Muscle Nerve 2011, 44:789-794.
38. Maselli R., Kong D.Z., Bowe C.M., et al. Presynaptic congenital myasthenic syndrome due to quantal release deficiency. Neurology 2001, 57:279-289.
39. Maselli R.A., Dunne V., Pascual-Pascual S.I., et al. Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. Muscle Nerve 2003, 28:293-301.
40. Maselli R.A., Chen D., Mo D., et al. Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis. Muscle Nerve 2003, 27:180-187.
41. Maselli R.A., Ng J.J., Anderson J.A., et al. Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J Med 2009, 46:203-208.
42. Maselli R.A., Arredondo J., Cagney ó., et al. Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction. Hum Mol Genet 2010, 19:2370-2379.
43. Maselli R.A., Fernandez J.M., Arredondo J., et al. LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. Hum Genet 2012, 131:1123-1135.
44. Mihaylova V., Müller J.S., Vichez J.J., et al. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain 2008, 131:747-759.
45. Mihaylova V., Salih M.A., Mukhtar M.M., et al. Refinement of the clinical phenotype in MuSK-related congenital myasthenic syndromes. Neurology 2009, 73:1926-1928.
46. Milone M., Wang H.L., Ohno, et al. Slow-channel syndrome caused by enhanced activation, desensitization, and agonist binding activity due to mutation in the M2 domain of the acetylcholine receptor alpha subunit. J Neurosci 1997, 17:5561-5565.
47. Milone M., Fukuda T., Shen X.M., et al. Novel congenital myasthenic syndromes associated with defects in quantal release. Neurology 2006, 66:1223-1229.
48. Milone M., Shen X.M., Selcen D., et al. Myasthenic syndrome due to defects in rapsyn: clinical and molecular findings in 39 patients. Neurology 2009, 73:228-235.
49. Millichap J.G., Dodge P.R. Diagnosis and treatment of myasthenia gravis in infancy, childhood, and adolescence. Neurology 1960, 10:1007-1014.
50. Mora M., Lambert E.H., Engel A.G. Synaptic vesicle abnormality in familial infantile myasthenia. Neurology 1987, 37:206-214.
51. Morar B., Gresham D., Angelicheva D., et al. Mutation history of the Roma/Gypsies. Am J Hum Genet 2004, 75:596-609.
52. Morgan N.V., Brueton L.A., Cox P., et al. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet 2006, 79:390-395.
53. Müller J.S., Mildner G., Müller-Felber W., et al. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. Neurology 2003, 60:1805-1810.
54. Müller J.S., Abicht A., Christen H.J., et al. A newly identified chromosomal deletion in of the rapsyn gene causes a congenital myasthenic syndrome. Neuromuscul Disord 2004, 14:744-749.
55. Müller J.S., Abicht A., Burke G., et al. The congenital myasthenic syndrome (CMS) mutation RAPSN N88K derives from an ancient Indo-European founder. J Med Genet 2004, 41:e104-e106.
56. Müller J.S., Petrova S., Kiefer R., et al. Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene. Neuropediatrics 2004, 35:183-189.
57. Müller J., Herczegfalvi A., Vilchez J.J., et al. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 2007, 130:1497-1506.
58. Nichols P., Croxen R., Vincent A., et al. Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome. Ann Neurol 1999, 45:439-443.
59. Ohno K., Brengman J.M., Tsujino A., 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, 95:9654-9659.
60. Ohno K., Engel A.G., Brengman J.M., et al. The spectrum of mutations causing endplate acetylcholinesterase deficiency. Ann Neurol 2000, 47:162-170.
61. Ohno K., Engel A.G., Shen X.M., et al. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet 2002, 70:875-885.
62. Ohno K., Tsujino A., Shen X.M., et al. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci U S A 2002, 98:2017-2022.
63. Ohno K., Sadeh M., Blatt I., et al. E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Hum Mol Genet 2003, 12:739-748.
64. Okada K., Inoue A., Okada A., et al. The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science 2006, 312:1802-1805.
65. Oosterhuis H., Newsom-Davis J., Wokke J., et al. The slow channel syndrome. Two new cases. Brain 1987, 110:1061-1079.
66. Palace J., Lashley D., Newsom-Davis J., et al. Clinical features of DOK7 neuromuscular junction synaptopathy. Brain 2007, 130:1507-1515.
67. Palace J., Lashley D., Bailey S., et al. Clinical features in a series of fast channel congenital myasthenia syndrome. Neuromuscul Disord 2012, 22:112-117.
68. Ramarao M.K., Bianchetta M.J., Lauken J., et al. Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self association and nicotinic acetylcholine receptor clustering. J Biol Chem 2001, 9:7475-7483.
69. Richard P., Gaudon K., Andreux F., et al. Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. J Med Genet 2003, 40:e81-e85.
70. Richard P., Gaudon K., Haddad H., et al. The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. Neurology 2008, 71:1967-1972.
71. Rodolico C., Toscano A., Autunno M., et al. Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases. Neuromuscul Disord 2002, 12:964-969.
72. Schara U., Lochmüller H. Therapeutic strategies in congenital myasthenic syndromes. Neurotherapeutics 2008, 5:542-547.
73. Schmidt C., Abicht A., Krampfl K., et al. Congenital myasthenic syndrome due a novel missense mutation in the gene encoding choline acetyltransferase. Neuromuscul Disord 2003, 13:245-251.
74. Selcen D., Milone M., Shen X.-M., et al. Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann Neurol 2008, 64:71-87.
75. Senderek J., Müller J.S., Dusl M., et al. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet 2011, 88:162-172.
76. Sine S.M., Wang H.L., Ohno K., et al. Mechanistic diversity underlying fast channel congenital myasthenic syndromes. Ann N Y Acad Sci 2003, 998:128-137.
77. Tsujino A., Maertens C., Ohno K., et al. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A 2003, 100:7377-7382.
78. Uchitel O., Engel A.G., Walls T.J., et al. Congenital myasthenic syndromes: II. A syndrome attributed to abnormal interaction of acetylcholine with its receptor. Muscle Nerve 1993, 16:1293-1301.
79. Vogt J., Harrison B.J., Spearman H., et al. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterigium syndrome/fetal akinesia. Am J Hum Genet 2008, 82:222-227.
80. Wargon I., Richard P., Kuntzer T., et al. Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations. Neuromuscul Disord 2012, 22:318-324.
81. Webster R., Brydson M., Croxen R., et al. Mutation in the AChR ion channel gate underlies a fast channel congenital syndrome. Neurology 2004, 62:1090-1096.
82. Zephir H., Stojkovic T., Maurage C., et al. Tubular aggregate congenital myopathy associated with neuromuscular block (in French). Rev Neurol (Paris) 2001, 157:1293-1296.
83. Zhang B., Luo S., Wang Q., et al. LRP4 serves as a coreceptor of agrin. Neuron 2008, 60:285-297.