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Article

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.

Human genetics - 1 Nov 1991

Koch M C, Ricker K, Otto M, Grimm T, Bender K, Zoll B, Harper P S, Lehmann-Horn F, Rüdel R, Hoffman E P

Abstract excerpt

Paramyotonia congenita (PC), an autosomal dominant non-progressive muscle disorder, is characterised by cold-induced stiffness followed by muscle weakness. The weakness is caused by a dysfunction of the sodium channel in muscle fibre. Parts of the gene coding for the alpha-subunit of the sodium channel of the adult human skeletal muscle (SCN4A) have been localised on chromosome 17. To investigate the role of this...

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PMID: 1660029
DOI: 10.1007/BF00204932

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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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Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.PMID 1660029Read ↗

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.Semantic proximity Read ↗

Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.Semantic proximity Read ↗

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Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family.Semantic proximity Read ↗

C4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg)--correlations with clinical, neurophysiological and muscle biopsy data.Semantic proximity Read ↗

A SCN4A mutation causing paramyotonia congenita.Semantic proximity Read ↗

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

A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.Semantic proximity Read ↗

Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.Semantic proximity Read ↗

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