Congenital myasthenic syndromes

Journal of Clinical Neuroscience

Volumn 16, Issue 1, 2009, Pages 1-11

  Nogajski, Joseph H ^a   Kiernan, Matthew C ^a,b   Ouvrier, Robert A ^c   Andrews, P Ian ^b,d  

^a PRINCE OF WALES HOSPITAL   (Australia)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d SYDNEY CHILDREN'S HOSPITAL   (Australia)

Author keywords

Congenital; Myasthenia; Neuromuscular

Indexed keywords

3,4 DIAMINOPYRIDINE; ACETAZOLAMIDE; ACETYLCHOLINE; CHOLINERGIC RECEPTOR; CHOLINESTERASE INHIBITOR; EPHEDRINE; FLUOXETINE; PYRIDOSTIGMINE; QUINIDINE; VOLTAGE GATED CALCIUM CHANNEL;

APNEA ATTACK; AREFLEXIA; ARTHROGRYPOSIS; ATAXIA; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; CONTRACTURE; DNA DETERMINATION; EATON LAMBERT SYNDROME; ELECTRODIAGNOSIS; ELECTROMYOGRAPHY; FEEDING DISORDER; FETUS MOVEMENT; HUMAN; HYDRAMNIOS; MUSCLE ACTION POTENTIAL; MUSCLE CELL; MUSCLE FATIGUE; MUSCLE HYPOTONIA; NEUROMUSCULAR SYNAPSE; NEUROMUSCULAR TRANSMISSION; NYSTAGMUS; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PTOSIS; RECEPTOR BINDING; RESPIRATORY FAILURE; REVIEW; SCOLIOSIS; SKIN DISEASE;

HUMANS; MYASTHENIC SYNDROMES, CONGENITAL;

EID: 56949084051     PISSN: 09675868     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jocn.2008.05.001     Document Type: Review

References (48)

1. Engel A.G., Ohno K., and Sine S.M. Congenital myasthenic syndromes: progress over the past decade. Muscle Nerve 27 (2003) 4-25
2. Harper C.M. Congenital myasthenic syndromes. Semin Neurol 24 (2004) 111-123
3. Engel A.G. 73rd ENMC International Workshop: congenital myasthenic syndromes 22-23 October 1999, Naarden, The Netherlands. Neuromuscul Disord 11 (2001) 315-321
4. Salpeter M.M., and Loring R.H. Nicotinic acetylcholine receptors in vertebrate muscle: properties, distribution and neural control. Prog Neurobiol 25 (1985) 297-325
5. Sanes J.R., and Lichtman J.W. Development of the vertebrate neuromuscular junction. Ann Rev Neurosci 22 (1999) 389-442
6. Kandel E.R., and Siegelbaum S.A. Signaling at the nerve-muscle synapse: directly gated transmission. In: Kandel E.R., Schwartz J.H., and Jessel T.M. (Eds). Principles of Neural Science (2000), McGraw-Hill, New York 187-206
7. Lateva Z.C., McGill K.C., and Johanson E.M. Electrophysiological evidence of adult human skeletal muscle fibers with multiple endplates and polyneural innervation. J Physiol 544 (2002) 549-565
8. McComas A.J., Kereshi S., and Manzano G.M. Multiple innervation of human muscle fibers. J Neurol Sci 64 (1984) 55-64
9. Reichardt L.F., and Kelly R.B. A molecular description of nerve terminal function. Ann Rev Biochem 52 (1983) 871-926
10. Engel A.G. The neuromuscular junction. In: Engel A.G., and Banker B.Q. (Eds). Myology (1986), McGraw-Hill, New York 209-254
11. Croxen R., Hatton C., Shelley C., et al. Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. Neurology 59 (2002) 162-168
12. Tsujino A., Maertens C., Ohno S., et al. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci USA 100 (2003) 7377-7382
13. Cornblath D.R. Disorders of neuromuscular transmission in infants and children. Muscle Nerve 9 (1986) 606-611
14. Oh S.J. Repetitive nerve stimulation test. Methods Clin Neurophysiol 3 (1992) 1
15. Koenigsberger M.R., Patten B., and Lovelace R.E. Studies of neuromuscular function in the newborn: 1. A comparison of myoneural function in the full term and premature infant. Neuropaediatrie 4 (1973) 350-361
16. Wise G.A., and McQuillen M.P. Transient neonatal myasthenia. Arch Neurol 22 (1970) 556-565
17. Liveson J.A., and Ma D.M. Laboratory Reference for Clinical Neurophysiology. 1st ed. (1992), F.A. Davis Company, Philadelphia 363-371
18. Gutierrez A.R., Bodensteiner J., and Gutmann L. Electrodiagnosis of infantile botulism. J Child Neurol 9 (1994) 362-365
19. Lambert E.H., Eaton L.M., and Rooke E.D. Defect of neuromuscular conduction associated with malignant neoplasms. Am J Physiol 187 (1956) 612-613
20. Stalberg E., and Trontelj J.V. Single Fiber Electromyography Studies in Healthy and Diseased Muscle. 2nd Edn (1994), Raven Press, New York
21. Sanders D.B. Single fiber EMG in myasthenia gravis. In: Kimura J., and Shibasaki H. (Eds). Recent Advances in Clinical Neurophysiology (1996), Elsevier, Amsterdam 288-291
22. Bromberg M.B., and Scott D.M. Single fiber EMG reference values: Reformatted in tabular form. Muscle Nerve 17 (1994) 628-636
23. Gilchrist J.M., and Ad hoc C. Single fiber EMG reference values: A collaborative effort. Muscle Nerve 15 (1992) 151-161
24. Trontelj J.V., Khuraibet A., and Mihelin M. The jitter in stimulated orbicularis oculi muscle: technique and normal values. J Neurol Neurosurg Psychiatry 51 (1988) 814-819
25. Zafieriou D.I., Pitt M., and De Sousa C. Clinical and neurophysiological characteristics of congenital myasthenic syndromes presenting in early infancy. Brain Dev 26 (2004) 47-52
26. Hutchinson D.O., Walls T.J., Nakano S., et al. Congenital endplate acetylcholinesterase deficiency. Brain 116 (1993) 633-653
27. Shapira Y.A., Sadeh M.E., Bergtraum M.P., et al. Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. Neurology 58 (2002) 603-609
28. Banwell B.L., Russel J., Fukudome T., et al. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. J Neuropathol Exp Neurol 58 (1999) 832-846
29. Hutchinson D.O., Engel A.G., Walls T.J., et al. The spectrum of congenital endplate acetylcholinesterase deficiency. Ann NY Acad Sci 681 (1993) 469-486
30. Bedlack R.S., Bertorini T.E., and Sanders D.B. Hidden afterdischarges in slow channel congenital myasthenic syndrome. J Clin Neuromusc Dis 1 (2000) 186-189
31. Webster R., Brydson M., Croxen R., et al. Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. Neurology 62 (2004) 1090-1096
32. Engel A.G., Uchitel O.D., Walls T.J., et al. Newly recognised congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel. Ann Neurol 34 (1993) 38-47
33. Bady B., Chauplannaz G., and Carrier H. Congenital Lambert-Eaton myasthenic syndrome. J Neurol Neurosurg Psychiatry 50 (1987) 476-478
34. Burke G., Cossins J., Maxwell S., et al. Rapsyn mutations in hereditary myasthenia: Distinct early- and late-onset phenotypes. Neurology 61 (2003) 826-828
35. Maselli R.A., Kong D.Z., Bowe C.M., et al. Presynaptic congenital myasthenic syndrome due to quantal release deficiency. Neurology 57 (2001) 279-289
36. Engel A.G., Ohno K., Bouzat C., et al. End-plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit. Ann Neurol 40 (1996) 810-817
37. Burke G., Cossins J., Maxwell S., et al. Distinct phenotypes of congenital acetylcholine receptor deficiency. Neuromuscul Disord 14 (2004) 356-364
38. Bundey S. A genetic study of infantile and juvenile myasthenia gravis. J Neurol Neurosurg Psychiatr 35 (1972) 41-51
39. Kiernan M.C., Lin C.S., and Burke D. Differences in activity-dependent hyperpolarization in human sensory and motor axons. J Physiol (London) 558 (2004) 341-349
40. Kiernan M.C. Impulse conduction. In: Aminoff M.J., and Daroff R.B. (Eds). Encyclopedia of the Neurological Sciences Vol. 2 (2003), Academic Press, USA 639-642
41. Palace J., Wiles C.M., and Newsom-Davis J. 3,4-Diaminopyridine in the treatment of congenital (hereditary) myasthenia. J Neurol Neurosurg Psychiatry 54 (1991) 1069-1072
42. Harper C.M., and Engel A.G. Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. Ann Neurol 43 (1998) 480-484
43. Harper C.M., Fukudome T., and Engel A.G. Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. Neurology 60 (2003) 1710-1713
44. Ohno K., and Engel A.G. Congenital myasthenic syndromes: gene mutations. Neuromuscul Disord 14 (2004) 117-122
45. Emeryk B., Rowinska-Marcinska K., Nowak-Michalska T., et al. Muscular fatigability in mitochondrial myopathies. Electromyogr Clin Neurophysiol 32 (1992) 235-245
46. Ukachoke C., Ashby P., Basinski A., et al. Usefulness of single fibre EMG for distinguishing neuromuscular from other causes of ocular muscle weakness. Can J Neurol Sci 21 (1994) 125-128
47. Ly C.V., and Verstreken P. Mitochondria at the synapse. Neuroscientist 12 (2006) 291-299
48. Andrews P.I., and Sanders D.B.S. Neuromuscular transmission defects. In: Holmes G.L., Moshe S.L., and Jones Jr. H.R. (Eds). Clinical Neurophysiology of Infancy, Childhood and Adolescence (2006), Butterworth, Heinemann, Philadelphia 713-746