Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes

Neurology

Volumn 59, Issue 2, 2002, Pages 162-168

  Croxen, R ^a   Hatton, C ^b   Shelley, C ^b   Brydson, M ^a   Chauplannaz, G ^c   Oosterhuis, H ^d   Vincent, A ^a   Newsom Davis, J ^a   Colquhoun, D ^b   Beeson, D ^a,e  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITÉ LYON 1   (France)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; RECEPTOR SUBUNIT;

ADULT; CELL LINE; CLINICAL EXAMINATION; CONSANGUINEOUS MARRIAGE; DIAGNOSTIC VALUE; FEMALE; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENE MUTATION; GENETIC TRANSFECTION; HAPLOTYPE; HUMAN; HUMAN CELL; MALE; PATCH CLAMP; PATHOGENESIS; PRIORITY JOURNAL; RECESSIVE INHERITANCE; REVIEW; SLOW CHANNEL CONGENITAL MYASTHENIC SYNDROME;

EID: 0037162345     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.59.2.162     Document Type: Review

References (24)

1. A newly recognised congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel
2. Congenital myasthenic syndromes
3. Mutations affecting muscle nicotinic acetylcholine receptors and their role in congenital myasthenic syndromes
4. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the ε subunit
5. A leucine to phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome
6. Mutation of the acetylcholine receptor α subunit causes a slow channel myasthenic syndrome by enhancing agonist binding affinity
7. A β-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome
8. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
9. Mutations in different functional domains of the human muscle acetylcholine receptor α subunit in patients with slow-channel congenital myasthenic syndrome
10. Slow-channel myasthenic syndrome caused by enhanced activation, desensitisation and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor α subunit
11. Novel delta subunit mutation in slow channel syndrome causes severe weakness by novel mechanisms
12. The slow channel syndrome: Two new cases
13. Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests
14. Primary structure of the human muscle acetylcholine receptor: cDNA cloning of the gamma and epsilon subunits
15. Fitting and statistical analysis of single-channel records
16. Properties of single channel currents elicited by a pulse of agonist concentration or voltage
17. Single-channel activations and concentration jumps: Comparison of recombinant NR1a/NR2A and NR1a/NR2D NMDA receptors
18. Deactivation and desensitization of mouse embryonic- and adult-type nicotinic receptor channels
19. Mechanisms of activation of muscle nicotinic acetylcholine receptors and the time course of endplate currents
20. Identification of acetylcholine receptor channel-lining residues in the M1 segment of the α-subunit
21. Mutation in the M1 domain of the acetylcholine receptor α subunit decreases the rate of agonist dissociation
22. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor ε subunit
23. Nicotinic receptors at the amino acid level
24. Crystal structure of an ACh-binding protein reveals the ligand-binding domain of nicotinic receptors