Clinical features in a series of fast channel congenital myasthenia syndrome

Neuromuscular Disorders

Volumn 22, Issue 2, 2012, Pages 112-117

  Palace, Jacqueline ^a   Lashley, Daniel ^a   Bailey, Stephen ^a   Jayawant, Sandeep ^a   Carr, Aisling ^b   McConville, John ^b   Robb, Stephanie ^c   Beeson, David ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b BELFAST CITY HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Clinical features; Congenital myasthenic syndrome; Fast channel; Respiratory crises

Indexed keywords

3,4 DIAMINOPYRIDINE; ACETYLCHOLINESTERASE; EPHEDRINE; PYRIDOSTIGMINE;

ADOLESCENT; ADULT; APNEA; ARTHROGRYPOSIS; ARTICLE; ASSISTED VENTILATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; DEATH; FAMILY HISTORY; FEEDING DISORDER; FLEXION CONTRACTURE; FOLLOW UP; FRAMESHIFT MUTATION; GENETIC SCREENING; GREECE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LOSS OF FUNCTION MUTATION; MUSCLE WEAKNESS; OPHTHALMOPLEGIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; RESPIRATORY TRACT DISEASE; RESPIRATORY TRACT INFECTION; SCHOOL CHILD; SIBLING; STRIDOR;

4-AMINOPYRIDINE; ADULT; CHILD; CHILD, PRESCHOOL; HUMANS; INFANT; MIDDLE AGED; MUSCLE WEAKNESS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL;

EID: 84856347131     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.08.002     Document Type: Article

References (22)

1. Engel A.G., Shen X.M., Selcen D., Sine S.M. What have we learned from the congenital myasthenic syndromes. J Mol Neurosci 2010, 40:143-153.
2. Beeson D., Hantai D., Lochmuller H., Engel A.G. 126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, The Netherlands. Neuromuscul Disord 2005, 15:498-512.
3. Engel A.G., Ohno K., Sine S.M. Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat Rev Neurosci 2003, 4:339-352.
4. Ohno K., Wang H.L., Milone M., et al. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron 1996, 17:157-170.
5. Shen X.-M., Ohno K., Fukudome T., et al. Congenital myasthenic syndrome caused by low-expressor fast channel AChR δ subunit mutation. Neurology 2002, 59:1881-1888.
6. Engel A.G., Ohno K., Milone M., Sine S. Congenital myasthenic syndromes: New insights form molecular genetic and patch clamp studies. Ann N Y Acad Sci 1998, 998:140-156.
7. Milone M., Wang H.L., Ohno K., et al. Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit. Neuron 1998, 20:575-588.
8. Wang H.L., Milone M., Ohno K., et al. Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Nat Neurosci 1999, 2:226-233.
9. Wang H.L., Ohno K., Milone M., et al. Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. J Gen Physiol 2000, 116:449-462.
10. Brownlow S., Webster R., Croxen R., et al. Acetylcholine receptor subunit mutations underlie a fast channel myasthenic syndrome and arthrogryposis multiplex congenita. J Clin Invest 2001, 108:125-130.
11. Sine S.M., Shen X.M., Wang H.L., et al. Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating. J Gen Physiol 2002, 120:483-496.
12. Sine S., Wang H.-L., Ohno K., et al. Mechanistic diversity underlying fast channel congenital myasthenic syndromes. Ann N Y Acad Sci 2003, 998:128-137.
13. Shen X.M., Ohno K., Tsujino A., et al. Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. J Clin Invest 2003, 111:497-505.
14. Webster R., Brydson M., Croxen R., et al. Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. Neurology 2004, 62:1090-1096.
15. Ealing J., Webster R., Brownlee S., et al. Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and cell surface expression of adult AChR. Hum Mol Genet 2002, 11:3087-3096.
16. Ohno K., Quiram P.A., Milone M., et al. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet 1997, 6:753-766.
17. Beeson D., Higuchi O., Palace J., et al. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 2006, 313:1975-1978.
18. Mihaylova V., Müller J.S., Vilchez J.J., et al. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain 2008, 131:747-759.
19. Burke G., Cossins J., Maxwell S., et al. Distinct phenotypes of congenital acetylcholine receptor deficiency. Neuromuscul Disord 2004, 14:356-364.
20. Robb S., Muntoni F., Simonds A. Respiratory Management of Congenital Myasthenic Syndromes in Childhood:Workshop 8th December 2009, UCL Institute of Neurology, London UK. Neuromuscul Disord 2010, 20:833-838.
21. Uchitel O., Engel A.G., Walls T.J., et al. Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor. Muscle Nerve 1993, 16:1293-1301.
22. Engel A.G., Sine S.M. Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol 2005, 5:308-321.