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A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A

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참고문헌 (6)

  1. Ptácek LJ, "Identification of a mutation in the gene causing hyperkalemic periodic paralysis", Cell, 67, pp.1021~1027 (1991)
  2. Koch MC, "Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile)", Neuroreport, 6, pp.2001~2004 (1995)
  3. Arnold WD, "Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome", Ann Neurol, 77, pp.840~850 (2015)
  4. Brancati F, "Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A", J Neurol Neurosurg Psychiatry, 74, pp.1339~1341 (2003)
  5. Gay S, "Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene", Am J Med Genet A, 146A, pp.380~383 (2008)
  6. Fontaine B, "Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families", Nat Genet, 6, pp.267~272 (1994)

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