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Article

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene.

Journal of the neurological sciences - 1 Oct 1996

Plassart E, Eymard B, Maurs L, Hauw J J, Lyon-Caen O, Fardeau M, Fontaine B

Abstract excerpt

Sodium channel disorders include hyperkalemic periodic paralysis (hyperPP), paramyotonia congenita (PC) and potassium-aggravated myotonia (PAM). PC is a myotonic syndrome characterized by cold-induced muscle stiffness and weakness. In this paper, we report two families. The first is affected by PC with cold-induced stiffness and no weakness, in addition to hyperPP. This family displays the Arg1448Cys mutation in...

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Source

Identifiers

PMID: 8902732
DOI: 10.1016/0022-510x(96)00173-6

Genes

PAM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene.PMID 8902732Read ↗

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