73rd ENMC International Workshop: Congenital myasthenic syndromes - 22-23 October, 1999, Naarden, The Netherlands

Neuromuscular Disorders

Volumn 11, Issue 3, 2001, Pages 315-321

  Engel, A E ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINE; ACETYLCHOLINESTERASE; CHOLINERGIC RECEPTOR; ION CHANNEL; PYRIDOSTIGMINE; CALCIUM CHANNEL;

ATAXIA; CONFERENCE PAPER; EATON LAMBERT SYNDROME; ENZYME DEFICIENCY; ETHNIC GROUP; HUMAN; MINIATURE ENDPLATE POTENTIAL; MISSENSE MUTATION; MYASTHENIA; NETHERLANDS; NEUROTRANSMITTER RELEASE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SYNAPSE VESICLE; SYNAPTIC TRANSMISSION; WORKSHOP; ALGORITHM; CONGENITAL MYASTHENIC SYNDROME; DIFFERENTIAL DIAGNOSIS; GENETICS; PATHOLOGY;

ALGORITHMS; CALCIUM CHANNELS; DIAGNOSIS, DIFFERENTIAL; HUMANS; MYASTHENIC SYNDROMES, CONGENITAL; NETHERLANDS; RECEPTORS, CHOLINERGIC;

EID: 0034744994     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00189-9     Document Type: Conference Paper

References (49)

1. Congenital myasthenic syndromes: Recent advances
2. Congenital myasthenic syndromes
3. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme
4. Mutation in the human acetylcholinesterase-associated gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency
5. Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate
6. Molecular basis of congenital myasthenic syndromes: mutations in the acetylcholine receptor
7. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency
8. Synaptic vesicle abnormality in familial infantile myasthenia
9. Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release
10. Congenital Lambert-Eaton myasthenic syndrome
11. Congenital endplate acetylcholinesterase deficiency caused by a nonsense mutation and an A-to-G splice site mutation at position +3 of the collagen-like tail subunit gene (COLQ): How does G at position +3 result in aberrant splicing?
12. The spectrum of mutations causing endplate acetylcholinesterase deficiency
13. A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release
14. Congenital endplate acetylcholinesterase deficiency
15. Slow-channel syndrome caused by enhanced activation, desensitization, and agonist binding affinity due to mutation in the M2 domain of the acetylcholine receptor alpha subunit
16. A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel
17. Serum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndrome
18. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
19. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the ε subunit
20. Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity
21. Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation
22. A beta-subunit mutation in the acetylcholine receptor gate causes severe slow-channel syndrome
23. Mutations in different functional domains of the human muscle acetylcholine receptor α subunit in patients with the slow-channel congenital myasthenic syndrome
24. Slow-channel congenital myasthenic syndrome caused by a novel mutation in the acetylcholine receptor ε subunit (abstract)
25. Slow-channel mutations in the center of the M1 transmembrane domain of the acetylcholine receptor α subunit (abstract)
26. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor ε subunit
27. Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating
28. Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor ε subunit
29. Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor
30. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ε subunit gene: identification and functional characterization of six new mutations
31. Mutational analysis in a congenital myasthenic syndrome reveals a novel acetylcholine receptor epsilon subunit mutation
32. End-plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit
33. Congenital myasthenic syndromes linked to chromosome 17p are caused by defects in acetylcholine receptor ε subunit gene
34. Novel functional ε-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome
35. A congenital myasthenic syndrome with severe acetylcholine receptor deficiency caused by heteroallelic frameshifting mutations in the epsilon subunit (abstract)
36. Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor ε subunit gene
37. Mutation of the acetylcholine receptor ε-subunit promoter in congenital myasthenic syndrome
38. Mutation causing congenital myasthenia reveals acetylcholine receptor β/δ subunit interaction essential for assembly
39. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment
40. Congenital myasthenic syndrome due to frameshifting acetylcholine receptor epsilon subunit mutation
41. Unusual congenital myasthenic syndrome with endplate AChR deficiency caused by alpha subunit mutations and a remitting-relapsing course
42. A common mutation (ε1267delG) in congenital myasthenic patients of Gypsy ethnic origin
43. A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency
44. Familial early myasthenia gravis
45. Congenital myasthenia associated with facial malformations in Iraqi and Iranian Jews. A new genetic syndrome
46. Single fiber EMG in a congenital myasthenic syndrome associated with facial malformations
47. Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes
48. 2+ channel defects in migraine, ataxia and epilepsy
49. 2+ channel mutation