메뉴 건너뛰기




Volumn 56, Issue 5, 2004, Pages 650-661

Electromyography guides toward subgroups of mutations in muscle channelopathies

Author keywords

[No Author keywords available]

Indexed keywords

ION CHANNEL; VOLTAGE GATED CALCIUM CHANNEL; VOLTAGE GATED SODIUM CHANNEL;

EID: 9144223871     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20241     Document Type: Article
Times cited : (249)

References (22)
  • 1
    • 0032126806 scopus 로고    scopus 로고
    • The familial periodic paralyses and nondystrophic myotonias
    • Ptacek L. The familial periodic paralyses and nondystrophic myotonias. Am J Med 1998;105:58-70.
    • (1998) Am J Med , vol.105 , pp. 58-70
    • Ptacek, L.1
  • 2
    • 0002286025 scopus 로고    scopus 로고
    • Ion channel defects in the hereditary myotonias and periodic paralysis
    • Martin JB, ed. New York: Scientific American
    • Cannon SC. Ion channel defects in the hereditary myotonias and periodic paralysis. In: Martin JB, ed. Molecular neurology. New York: Scientific American, 1998:257-277.
    • (1998) Molecular Neurology , pp. 257-277
    • Cannon, S.C.1
  • 3
    • 0032823307 scopus 로고    scopus 로고
    • Voltage-gated ion channels and hereditary disease
    • Lehmann-Horn F, Jurkat-Rott K. Voltage-gated ion channels and hereditary disease. Physiol Rev 1999;79:1317-1372.
    • (1999) Physiol Rev , vol.79 , pp. 1317-1372
    • Lehmann-Horn, F.1    Jurkat-Rott, K.2
  • 4
    • 0036310758 scopus 로고    scopus 로고
    • An expanding view for the molecular basis of familial periodic paralysis
    • Cannon SC. An expanding view for the molecular basis of familial periodic paralysis. Neuromuscul Disord 2002;12:533-543.
    • (2002) Neuromuscul Disord , vol.12 , pp. 533-543
    • Cannon, S.C.1
  • 5
    • 0034992428 scopus 로고    scopus 로고
    • Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A
    • Sternberg D, Maisonobe T, Jurkat-Rott K, et al. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 2001;124:1091-1099.
    • (2001) Brain , vol.124 , pp. 1091-1099
    • Sternberg, D.1    Maisonobe, T.2    Jurkat-Rott, K.3
  • 7
    • 0022648276 scopus 로고
    • Exercise and rest in hyperkalemic periodic paralysis
    • Subramony SH, Wee AS. Exercise and rest in hyperkalemic periodic paralysis. Neurology 1986;36:173-177.
    • (1986) Neurology , vol.36 , pp. 173-177
    • Subramony, S.H.1    Wee, A.S.2
  • 8
    • 0033947677 scopus 로고    scopus 로고
    • Exercise test in muscle channelopathies and other muscle disorders
    • Kuntzer T, Flocard F, Vial C, et al. Exercise test in muscle channelopathies and other muscle disorders. Muscle Nerve 2000;23:1089-1094.
    • (2000) Muscle Nerve , vol.23 , pp. 1089-1094
    • Kuntzer, T.1    Flocard, F.2    Vial, C.3
  • 9
    • 0020363050 scopus 로고
    • Transient paresis in myotonic syndromes: A simplified electrophysiologic approach
    • Streib EW, Sun SF, Yarkowski T. Transient paresis in myotonic syndromes: a simplified electrophysiologic approach. Muscle Nerve 1982;5:719-723.
    • (1982) Muscle Nerve , vol.5 , pp. 719-723
    • Streib, E.W.1    Sun, S.F.2    Yarkowski, T.3
  • 10
    • 0023182476 scopus 로고
    • Differential diagnosis of myotonic syndromes
    • Streib EW. Differential diagnosis of myotonic syndromes. Muscle Nerve 1987;10:603-615.
    • (1987) Muscle Nerve , vol.10 , pp. 603-615
    • Streib, E.W.1
  • 11
    • 0027491539 scopus 로고
    • Genotype-phenotype correlations in human skeletal muscle sodium channel diseases
    • Rüdel R, Ricker K, Lehmann-Horn F. Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. Arch Neurol 1993;50:1241-1248.
    • (1993) Arch Neurol , vol.50 , pp. 1241-1248
    • Rüdel, R.1    Ricker, K.2    Lehmann-Horn, F.3
  • 12
    • 0030271970 scopus 로고    scopus 로고
    • Paramyotonia congenita: Genotype to phenotype correlation in two families and report of a new mutation in the sodium channel gene
    • Plassart E, Eymard B, Maurs L, et al. Paramyotonia congenita: genotype to phenotype correlation in two families and report of a new mutation in the sodium channel gene. J Neurol Sci 1996;142:126-133.
    • (1996) J Neurol Sci , vol.142 , pp. 126-133
    • Plassart, E.1    Eymard, B.2    Maurs, L.3
  • 14
    • 1842867252 scopus 로고    scopus 로고
    • A Korean family with Arg1448C mutation of SCN4A channel causing paramyotonia congenita: Electrophysiologic, histopathologic, and molecular genetic studies
    • Kim DS, Kim EJ, Jung DS, et al. A Korean family with Arg1448C mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies. J Korean Med Sci 2002;17:856-860.
    • (2002) J Korean Med Sci , vol.17 , pp. 856-860
    • Kim, D.S.1    Kim, E.J.2    Jung, D.S.3
  • 15
  • 16
    • 0012558575 scopus 로고    scopus 로고
    • Electrodiagnosis of endplate disease
    • Engel AG, ed. New York: Oxford University Press
    • Harper CM Jr. Electrodiagnosis of endplate disease. In: Engel AG, ed. Myasthenia gravis and myasthenic disorders. New York: Oxford University Press, 1999:65-84.
    • (1999) Myasthenia Gravis and Myasthenic Disorders , pp. 65-84
    • Harper Jr., C.M.1
  • 17
    • 0037794423 scopus 로고    scopus 로고
    • Myasthenic syndrome caused by mutation of the SCN4A sodium channel
    • Tsujino A, Maertens C, Ohno K, et al. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A 2003;100:7377-7382.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 7377-7382
    • Tsujino, A.1    Maertens, C.2    Ohno, K.3
  • 18
    • 0029926886 scopus 로고    scopus 로고
    • Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker
    • Hayward LJ, Brown RH, Cannon SC. Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker. J Gen Physiol 1996;107:559-576.
    • (1996) J Gen Physiol , vol.107 , pp. 559-576
    • Hayward, L.J.1    Brown, R.H.2    Cannon, S.C.3
  • 19
    • 0028589331 scopus 로고
    • Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro
    • Yang N, Ji S, Zhou M, et al. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc Natl Acad Sci U S A 1994;91:12785-12789.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 12785-12789
    • Yang, N.1    Ji, S.2    Zhou, M.3
  • 20
    • 0032521124 scopus 로고    scopus 로고
    • Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line
    • Plassart-Schiess E, Lhuillier L, George AL Jr, et al. Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line. J Physiol (Lond) 1998;507:721-727.
    • (1998) J Physiol (Lond) , vol.507 , pp. 721-727
    • Plassart-Schiess, E.1    Lhuillier, L.2    George Jr., A.L.3
  • 21
    • 0344839032 scopus 로고    scopus 로고
    • Decrement of compound muscle action potential is related to mutation in myotonia congenita
    • Colding-Jorgensen E, Duno M, Schwartz M, Vissing J. Decrement of compound muscle action potential is related to mutation in myotonia congenita. Muscle Nerve 2003;27:449-455.
    • (2003) Muscle Nerve , vol.27 , pp. 449-455
    • Colding-Jorgensen, E.1    Duno, M.2    Schwartz, M.3    Vissing, J.4
  • 22
    • 0034730148 scopus 로고    scopus 로고
    • Skeletal muscle sodium current is reduced in hypokalemic periodic paralysis
    • Ruff RL. Skeletal muscle sodium current is reduced in hypokalemic periodic paralysis. Proc Natl Acad Sci U S A 2000;97:9832-9833.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 9832-9833
    • Ruff, R.L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.