Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship

Neuromuscular Disorders

Volumn 21, Issue 3, 2011, Pages 214-218

  Witoonpanich, Rawiphan ^a   Pulkes, Teeratorn ^a   Dejthevaporn, Charungthai ^a   Yodnopklao, Praphan ^b   Witoonpanich, Pirada ^a   Wetchaphanphesat, Suppachok ^c   Brengman, Joan M ^d   Engel, Andrew G ^d  

^a MAHIDOL UNIVERSITY   (Thailand)

^b Surin Hospital   (Thailand)

^c Burirum Hospital   (Thailand)

^d Mayo Clinic   (United States)

Author keywords

Acetylcholine receptor; Alpha subunit; Phenotypic heterogeneity; Slow channel congenital myasthenic syndrome

Indexed keywords

PYRIDOSTIGMINE;

ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; ELECTROMYOGRAPHY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HUMAN; MALE; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MUSCLE WEAKNESS; NECK MUSCLE; NERVE CONDUCTION; NEUROMUSCULAR JUNCTION DISORDER; OPHTHALMOPLEGIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; THAILAND;

ADULT; AGED; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; GLYCINE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PHENOTYPE; RECEPTORS, NICOTINIC; SERINE; SIBLINGS; THAILAND; YOUNG ADULT;

EID: 79951942777     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.12.006     Document Type: Article

References (22)

1. Engel A.G., Sine S.M. Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol 2005, 5:308-321.
2. Muller J.S., Mihaylova V., Abicht A., Lochmuller H. Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission. Expert Rev Mol Med 2007, 9:1-20.
3. Engel A.G., Shen X.M., Selcen D., Sine S.M. Further observations in congenital myasthenic syndromes. Ann NY Acad Sci 2008, 1132:104-113.
4. Sanders D.B., Stalberg E.V. AAEM minimonograph #25: single-fiber electromyography. Muscle Nerve 1996, 19:1069-1083.
5. Sine S.M., Ohno K., Bouzat C., et al. Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 1995, 15:229-239.
6. Engel A.G., Ohno K., Sine S.M. Congenital myasthenic syndromes: progress over the past decade. Muscle Nerve 2003, 27:4-25.
7. Hantai D., Richard P., Koenig J., Eymard B. Congenital myasthenic syndromes. Curr Opin Neurol 2004, 17:539-551.
8. Harper C.M. Congenital myasthenic syndromes. Semin Neurol 2004, 24:111-123.
9. Nogajski J.H., Kiernan M.C., Ouvrier R.A., Andrews P.I. Congenital myasthenic syndromes. J Clin Neurosci 2009, 16:1-11.
10. Ohno K., Anlar B., Ozdirim E., Brengman J.M., DeBleecker J.L., Engel A.G. Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor. Ann Neurol 1998, 44:234-241.
11. Scola R.H., Werneck L.C., Iwamoto F.M., Comerlato E.A., Kay C.K. Acquired slow-channel syndrome. Muscle Nerve 2000, 23:1582-1585.
12. 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.
13. 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.
14. 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.
15. Gomez C.M., Maselli R., Gammack J., et al. A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome. Ann Neurol 1996, 39:712-723.
16. Gomez C.M., Maselli R.A., Vohra B.P., et al. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann Neurol 2002, 51:102-112.
17. Hatton C.J., Shelley C., Brydson M., Beeson D., Colquhoun D. Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits. J Physiol 2003, 547:729-760.
18. Milone M., Wang H.L., Ohno K., et al. Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. J Neurosci 1997, 17:5651-5665.
19. Shen X.M., Deymeer F., Sine S.M., Engel A.G. Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown. Ann Neurol 2006, 60:128-136.
20. Wang H.L., Auerbach A., Bren N., Ohno K., Engel A.G., Sine S.M. Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation. J Gen Physiol 1997, 109:757-766.
21. Croxen R., Hatton C., Shelley C., et al. Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. Neurology 2002, 59:162-168.
22. Croxen R., Hatton C., Shelley C., et al. Voluntary partial retraction of: Recessive inheritance, variable penetrance of slow-channel congenital myasthenic syndromes. Neurology 2009, 72:294.