Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

Détails

ID Serval
serval:BIB_9C8A9D0E306F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene
Périodique
Annals of Neurology
Auteur(s)
Ebers  G. C., George  A. L., Barchi  R. L., Ting-Passador  S. S., Kallen  R. G., Lathrop  G. M., Beckmann  J. S., Hahn  A. F., Brown  W. F., Campbell  R. D., Hudson  A. J.
ISSN
0364-5134 (Print)
Statut éditorial
Publié
Date de publication
12/1991
Volume
30
Numéro
6
Pages
810-6
Notes
Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S. --- Old month value: Dec
Résumé
The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndromes characterized by episodic paralysis associated with an elevated serum potassium level. Affected individuals in the same family tend to have homogeneous symptom complexes, although phenotypic variation is present among different families. For example, myotonia is absent in some pedigrees, present in others, and, in a third variant, paramyotonia congenita, myotonia coexists with cold-induced paralysis. Electrophysiological studies have demonstrated variant-specific abnormalities in skeletal muscle membrane sodium conductance. We tested the hypothesis that hyperkalemic periodic paralysis (without myotonia) and paramyotonia congenita are tightly linked to the tetrodotoxin-sensitive adult skeletal muscle sodium channel gene on chromosome 17q23-25 in two large pedigrees. The DNA polymorphisms detected in the growth hormone skeletal muscle sodium channel complex (GH1-SCN4A) and by flanking polymorphic markers (D17S74 and D17S40) demonstrated no recombinants between the disease phenotypes and this complex. Phenotypic variation in the hereditary hyperkalemic periodic paralyses may result from allelic heterogeneity at the tetrodotoxin-sensitive adult skeletal muscle sodium channel locus.
Mots-clé
Adult *Chromosomes, Human, Pair 17 Female Genes Humans Hyperkalemia/*genetics Lod Score Male Muscle Proteins/*genetics Muscles/*metabolism Myotonia Congenita/*genetics Paralyses, Familial Periodic/classification/*genetics Pedigree Phenotype Polymorphism, Restriction Fragment Length Sodium Channels/drug effects/*genetics Tetrodotoxin/pharmacology
Pubmed
Web of science
Création de la notice
25/01/2008 17:18
Dernière modification de la notice
20/08/2019 16:03
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