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Article

Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).

Neuroreport - 23 Oct 1995

Koch M C, Baumbach K, George A L, Ricker K

Abstract excerpt

The autosomal dominantly inherited phenotype of paramyotonia congenita (PC) without paralysis on exposure to cold MIM 168350) was originally described by De Jong in 1955. This phenotype is clearly different from classical paramyotonia congenita Eulenburg, which has been shown to be a sodium chann...

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PMID: 8580427
DOI: 10.1097/00001756-199510010-00012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8580427-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).PMID 8580427Read ↗

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