Neurology. 1992 Feb;42(2):431-3.

Linkage of atypical myotonia congenita to a sodium channel locus.

Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M.

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Department of Neurology, University of Utah School of Medicine, Salt Lake City 84132.

Abstract

We performed linkage analysis in a pedigree segregating an allele for autosomal dominant, painful myotonia that is potassium sensitive and responsive to acetazolamide. This allele was tightly linked to a skeletal-muscle, sodium channel locus which is now a candidate for the site of the mutational defect in acetazolamide-responsive myotonia congenita. Since this sodium channel locus is completely linked to the disease allele in all hyperkalemic periodic paralysis and paramyotonia congenita pedigrees studied, the molecular alteration causing acetazolamide-responsive myotonia congenita is likely an allelic defect in this human, skeletal-muscle, sodium channel gene.

PMID:: 1310531; [PubMed - indexed for MEDLINE]

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Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17. [Hum Genet. 1991]
Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.
Koch MC, Ricker K, Otto M, Grimm T, Bender K, Zoll B, Harper PS, Lehmann-Horn F, Rüdel R, Hoffman EP. Hum Genet. 1991 Nov; 88(1):71-4.
Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene. [Ann Neurol. 1991]
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Ebers GC, George AL, Barchi RL, Ting-Passador SS, Kallen RG, Lathrop GM, Beckmann JS, Hahn AF, Brown WF, Campbell RD. Ann Neurol. 1991 Dec; 30(6):810-6.
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Review From mutation to myotonia in sodium channel disorders.
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Review [Molecular genetics of sodium channel myopathies]. [Bratisl Lek Listy. 1997]
Review [Molecular genetics of sodium channel myopathies].
Ruscák J. Bratisl Lek Listy. 1997 Dec; 98(12):701-7.

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Cited by 3 PubMed Central articles

Review Channelopathies: ion channel defects linked to heritable clinical disorders. [J Med Genet. 2000]
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Boerman RH, Ophoff RA, Links TP, van Eijk R, Sandkuijl LA, Elbaz A, Vale-Santos JE, Wintzen AR, van Deutekom JC, Isles DE. J Med Genet. 1995 Jan; 32(1):44-7.
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Suthers GK, Davies KE. Am J Hum Genet. 1992 May; 50(5):887-91.

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Neurology. 1992 Feb ;42(2):431-3.

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