126th International Workshop: Congenital Myasthenic Syndromes, 24-26 September 2004, Naarden, the Netherlands

Neuromuscular Disorders

Volumn 15, Issue 7, 2005, Pages 498-512

  Beeson, David ^a   Hantaï, Daniel ^b   Lochmüller, Hanns ^c   Engel, Andrew G ^d  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d MAYO CLINIC   (United States)

Author keywords

Congenital Myasthenic Syndromes; Fast channel syndrome; Slow channel syndrome

Indexed keywords

3,4 DIAMINOPYRIDINE; CHOLINERGIC RECEPTOR; EPHEDRINE; ION CHANNEL; PYRIDOSTIGMINE; QUINIDINE;

CHOLINE ACETYL TRANSFERASE GENE; CONFERENCE PAPER; DISEASE CLASSIFICATION; DISEASE COURSE; DRUG FATALITY; GENE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE SPECIFIC KINASE GENE; MYASTHENIA GRAVIS; NETHERLANDS; NEUROMUSCULAR FUNCTION; NEUROMUSCULAR SYNAPSE; NONHUMAN; PHENOTYPE; PRESYNAPTIC NERVE; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; QT PROLONGATION; RAPSYN GENE; SCN4A GENE;

CHOLINE O-ACETYLTRANSFERASE; GENOTYPE; HUMANS; MOLECULAR BIOLOGY; MUSCLE PROTEINS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NETHERLANDS; NEUROMUSCULAR JUNCTION; PHENOTYPE; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTORS, CHOLINERGIC; SODIUM CHANNELS;

EID: 21244453035     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2005.05.001     Document Type: Conference Paper

References (59)

1. K. Ohno, and A.G. Engel Congenital myasthenic syndromes: gene mutations Neuromuscul Disord 14 2004 117 122
2. A.G. Engel, K. Ohno, and S.M. Sine Sleuthing molecular targets for neurological diseases at the neuromuscular junction Nat Rev Neurosci 4 2003 339 352
3. R. Croxen, C.J. Hatton, and C. Shelley Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes Neurology 59 2002 162 168
4. R. Webster, M. Brydson, R. Croxen, J. Newsom-Davis, A. Vincent, and D. Beeson Mutation in the AChR channel gate underlies a fast channel congenital myasthenic syndrome Neurology 62 2004 1090 1096
5. S.M. Sine, X.-M. Shen, and H.-L. Wang Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating J Gen Physiol 120 2002 483 496
6. S. Brownlow, R. Webster, and R. Croxen Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita J Clin Invest 108 2001 125 130
7. X.-M. Shen, K. Ohno, and A. Tsujino Mutation causing severe myasthenia reveals functional asymmetry of AChR signature Cys-loops in agonist binding and gating J Clin Invest 111 2003 497 505
8. A. Abicht, R. Stucka, and V. Karcagi A common mutation (ε1267delG) in congenital myasthenic patients of Gypsy ethnic origin Neurology 53 1999 1564 1569
9. L. Middleton, K. Ohno, and K. Christodoulou Congenital myasthenic syndromes linked to chromosome 17p are caused by defects in acetylcholine receptor ε subunit gene Neurology 53 1999 1076 1082
10. R. Croxen, C. Newland, M. Betty, A. Vincent, J. Newsom-Davis, and D. Beeson Novel functional ε-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome Ann Neurol 46 1999 639 647
11. X.-M. Shen, K. Ohno, and T. Fukudome Congenital myasthenic syndrome caused by low-expressor fast-channel AChR δ subunit mutation Neurology 59 2002 1881 1888
12. J. Ealing, R. Webster, and S. Brownlow Mutations in congenital myasthenic syndromes reveal an ε subunit C-terminal cysteine, C470, crucial for maturation and surface expressions of adult AChR Hum Mol Genet 11 2002 3087 3096
13. A. Abicht, R. Stucka, and C. Schmidt A newly identified chromosomal microdeletion and an N-box mutation of the AChRε? gene cause a congenital myasthenic syndrome Brain 125 2002 1005 1013
14. K. Ohno, B. Anlar, and A.G. Engel Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor ε subunit gene Neuromuscul Disord 9 1999 131 135
15. P.R. Nichols, R. Croxen, and A. Vincent Mutation of the acetylcholine receptor ε-subunit promoter in congenital myasthenic syndrome Ann Neurol 45 1999 439 443
16. A.G. Engel, K. Ohno, and S.M. Sine Congenital myasthenic syndromes: a diverse array of molecular targets J Neurocytol 32 2003 1017 1037
17. K. Ohno, A.G. Engel, and J.M. Brengman The spectrum of mutations causing endplate acetylcholinesterase deficiency Ann Neurol 47 2000 162 170
18. L.M. Kimbell, K. Ohno, A.G. Engel, and R.L. Rotundo C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse J Biol Chem 279 2004 10997 11005
19. A.G. Engel, K. Ohno, and S.M. Sine Congenital myasthenic syndromes: progress over the past decade Muscle Nerve 27 2003 251 297
20. K. Ohno, A. Tsujino, and X.-M. Shen Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans Proc Natl Acad Sci USA 98 2001 2017 2022
21. R.F. Byring, H. Pihko, and X.-M. Shen Congenital myasthenic syndrome associated with episodic apnea and sudden infant death Neuromuscul Disord 12 2002 548 553
22. C. Schmidt, A. Abicht, and K. Krampfl Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase Neuromuscul Disord 13 2003 245 251
23. R.A. Maselli, D. Chen, M.O. Delores, C. Bowe, G. Fenton, and R.L. Wollman Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetycholine resynthesis Muscle Nerve 27 2003 180 187
24. N. Barisic, J.S. Müller, and E. Paucic-Kirincic Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants Eur J Paediatr Neurol 9 2005 7 12
25. M.K. Ramarao, M.J. Bianchetta, J. Lanken, and J.B. Cohen Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering J Biol Chem 276 2001 7475 7483
26. M. Bartoli, M.K. Ramarao, and J.B. Cohen Interactions of the rapsyn RING-H2 domain with dystroglycan J Biol Chem 276 2001 24911 24917
27. Y.I. Lee, S.L. Swope, and M.J. Ferns Rapsyn's C-terminal domain mediates MuSK-induced phosphorylation of the AChR Mol Biol Cell 13 2002 395a
28. K. Ohno, M. Sadeh, I. Blatt, J.M. Brengman, and A.G. Engel E-box mutations in RAPSN promoter region in eight cases with congenital myasthenic syndrome Hum Mol Genet 12 2003 739 748
29. K. Ohno, A.G. Engel, and X.-M. Shen Rapsyn mutations in humans cause endplate acetylcholine receptor deficiency and myasthenic syndrome Am J Hum Genet 70 2002 875 885
30. E. Yasaki, C. Prioleau, and J. Barbier Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation Neuromuscul Disord 14 2004 24 32
31. D. Hantaï, P. Richard, J. Koenig, and B. Eymard Congenital myasthenic syndromes Curr Opin Neurol 17 2004 539 551
32. J.S. Müller, G. Mildner, and W. Müller-Felber Rapsyn N88K is a frequent cause of CMS in European patients Neurology 60 2003 1805 1810
33. P. Richard, K. Gaudon, and F. Andreux Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes J Med Genet 40 2003 e81
34. J.S. Müller, A. Abicht, and G. Burke The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder J Med Genet 41 2004 e104
35. K. Ohno, and A.G. Engel Lack of founder haplotype for the rapsyn mutation: N88K is an ancient founder mutation or arises from multiple founders J Med Genet 41 2004 e8
36. J.S. Müller, A. Abicht, and H.J. Christen A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome Neuromuscul Disord 14 2004 744 749
37. B.L. Banwell, K. Ohno, J.P. Sieb, and A.G. Engel Novel truncating RAPSN mutation causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine Neuromuscul Disord 14 2004 202 207
38. G. Burke, J. Cossins, and S. Maxwell Rapsyn mutations in hereditary myasthenia. Distinct early- and late-onset phenotypes Neurology 61 2003 826 828
39. A. Tsujino, C. Maertens, and K. Ohno Myasthenic syndrome caused by mutation of the SCN4A sodium channel Proc Natl Acad Sci USA 100 2003 7377 7382
40. F. Chevessier, B. Faraut, and A. Ravel-Chapuis MUSK, a new target for mutations causing congenital myasthenic syndrome Hum Mol Genet 13 2004 3229 3240
41. D. Selcen, T. Fukuda, X.M. Shen, and A.G. Engel Are MuSK antibodies the primary cause of myasthenic symptoms? Neurology 62 2004 1945 1950
42. X.C. Kong, P. Barzaghi, and M.A. Ruegg Inhibition of synapse assembly in mammalian muscle in vivo by RNA interference Eur Mol Biol Organ Rep 5 2004 183 188
43. G. Bezakova, J.P. Helm, M. Francolini, and T. Lomo Effects of purified recombinant neural and muscle agrin on skeletal muscle fibers in vivo J Cell Biol 153 2001 1441 1452
44. L. Fromm, and M. Rhode Neuregulin-1 induces expression of Egr-1 and activates acetylcholine receptor transcription through an Egr-1-binding site J Mol Biol 339 2004 483 494
45. J. Moll, P. Barzaghi, and S. Lin An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy Nat (London) 413 2001 302 307
46. J. Minic, A. Chatonnet, E. Krejci, and J. Molgo Butyrylcholinesterase and acetylcholinesterase activity and quantal transmitter release at normal and acetylcholinesterase knockout mouse neuromuscular junctions Br J Pharmacol 138 2003 177 187
47. G. Feng, E. Krejci, J. Molgo, J.M. Cunningham, J. Massoulie, and J.R. Sanes Genetic analysis of collagen Q: roles in acetylcholinesterase and butyrylcholinesterase assembly and in synaptic structure and function J Cell Biol 144 1999 1349 1360
48. Y.A. Shapira, M.E. Sadeh, and M.P. Bergtraum Three novel COLQ mutations and variation of phenotypic expressivity due to G240X Neurology 58 2002 603 609
49. K. Ishigaki, D. Nicolle, and E. Krejci Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency Neuromuscul Disord 13 2003 236 244
50. J. Cossins, R. Webster, S. Maxwell, G. Burke, A. Vincent, and D. Beeson A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition Hum Mol Genet 13 2004 2947 2957
51. A.G. Engel, K. Ohno, and S.M. Sine Congenital myasthenic syndromes - progress over the past decade Muscle Nerve 27 2003 4 25
52. R.A. Maselli, D.Z. Kong, and C.M. Bowe Presynaptic congenital myasthenic syndrome due to quantal release deficiency Neurology 57 2001 279 289
53. C. Rodolico, A. Toscano, and M. Autunno Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases Neuromuscul Disord 2002 964 969
54. G. Burke, J. Cossins, and S. Maxwell Distinct phenotypes of congenital acetylcholine receptor deficiency Neuromuscul Disord 14 2004 356 364
55. B. Morar, D. Gresham, and D. Angelicheva Mutation history of the Roma/Gypsies Am J Hum Genet 75 2004 596 609
56. A. Herczegfalvi, A. Abicht, V. Karcagi, and H. Lochmüller Case report: congenital myasthenic syndrome in a Gypsy family showing a pseudodominant pattern of inheritance Acta Myol 19 2000 49 51
57. A. Abdelghany, M. Wood, and D. Beeson Allele-specific gene silencing of a pathogenic mutant muscle acetylcholine receptor subunit by RNA interference Hum Mol Genet 12 2003 2637 2644
58. C.M. Harper, and A.G. Engel Treatment of 31 congenital myasthenic syndrome patients with 3,4-diaminopyridine Neurology 58 Suppl 3 2000 A395
59. C.M. Harper, T. Fukudome, and A.G. Engel Treatment of slow channel congenital myasthenic syndrome with fluoxetine Neurology 60 2003 170 173