A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.

No abstract is available for this paper.

• Publication year

  2006

• Venue

  Neuromuscular Disorders

• Publication date

  2006-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/J.NMD.2006.01.015PMID 16624558
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• A new mutation in a family with cold-aggravated myotonia disrupts Na+ channel inactivation

  2001cited by this paper
• Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica

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• K(+)‐aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation.

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• Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.

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• Increased sarcolemma chloride conductance as one of the mechanisms of action of carbonic anhydrase inhibitors in muscle excitability disorders.

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• Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita

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• Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.

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• Mutations in SCN4A: A Rare but Treatable Cause of Recurrent Life-Threatening Laryngospasm

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