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骨骼肌离子通道病 被引量:2

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出处 《中风与神经疾病杂志》 CAS CSCD 北大核心 2004年第4期382-384,共3页 Journal of Apoplexy and Nervous Diseases
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  • 1Davies NP, Hanna MG. The neurological channelopathies. In:Scolding NJ,editor. Contemporary treatments in neurology[J].Edinburgh: Butterworth-Heinemann, 2001. 400-440.
  • 2Davies NP,Hanna MG. The skeletal muscle channelopathies: distinct entities and overlapping syndromes [J]. Curr Opin Neurol,2003,16(5): 559-568.
  • 3Plassart E, Eymard B, Maurs L, et al. Paramyotonia congenita:genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene[J]. J Neurol Sci, 1996,142:126-133.
  • 4Kim J, Hahn Y, Sohn EH, et al. Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica[J]. J Neurol Neurosurg Psychiatry, 2001,70: 618-623.
  • 5McClatchey AI, McKenna-Yasek D, Cros D, et al. Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel[J]. Nat Genet, 1992,2:148-152.
  • 6Ptacek LJ,Gouw L, Kwiecinski H,et al. Sodium channel mutations in paramyoton ia congenita and hyperkalaemic periodic paralysis [J]. Ann Neurol, 1993,33: 300-307.
  • 7Wagner S, Lerche H, Mitrovic N,et al. A novel sodium channel mutation causing a hyperkalaemic paralytic and paramyotonic syndrome with variable clinical expressivity[J]. Neurology, 1997,49:1018-1025.
  • 8Okuda S, Kanda F, Nishimoto K,et al. Hyperkalaemic periodic paralysis and paramyotonia:a novel sodium channel mutation[J].J Neurol, 2001,248:1003-1004.
  • 9Kelly P,Yang WS,Costigan D,et al. Paramyotonia congenita and hyperkalaemic periodic paralysis associated with a Met1592Val substitution in the skeletal muscle sodium channel alpha subunit:a large kindred with a novel phenotype[J]. Neuromusc Disord,1997,7:
  • 10Davies NP, Eunson LH, Samuel M, et al. Sodium channel gene mutations inhypokalaemic periodic paralysis: an uncommon cause in the UK[J]. Neurology,2001,57:1323-1325.

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