ArticleAmerican journal of human genetics1992
Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
10 citing papers in PubMed, 46 citations in OpenAlex.
- Treatment updates in myotonic disorders.Journal of neurology · 2026Review
- The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.Brain : a journal of neurology · 2010Review
- Myasthenic syndrome caused by mutation of the SCN4A sodium channel.Proceedings of the National Academy of Sciences of the United States of America · 2003Article
- The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree.American journal of human genetics · 1997Article
- Haplotypes and mutations in Wilson disease.American journal of human genetics · 1995Article
- Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).Human genetics · 1994Article
- Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.Human genetics · 1994Article
- Haplotype studies in Wilson disease.American journal of human genetics · 1994Article
- Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene.American journal of human genetics · 1993Article
- The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11.Mammalian genome : official journal of the International Mammalian Genome Society · 1992Article
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Two polymorphic dinucleotide repeats--one (dGdA)n and one (dGdT)n--have been identified at the SCN4A locus, encoding the alpha-subunit of the adult skeletal muscle sodium channel. When typed using PCR, the dinucleotide repeats display 4 and 10 alleles, respectively, with a predicted heterozygosity of .81 for the combined haplotype. We have applied these polymorphisms to the investigation of hyperkalemic periodic paralysis and paramyotonia congenita, distinct neuromuscular disorders both of which are thought to involve mutation at SCN4A. Our data confirm the genetic linkage of both disorders with SCN4A. Haplotype analysis also indicates the strong likelihood of allelic heterogeneity in both disorders.
Indexed as
Identifiers
1315122PMC1682609W1670688784What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.