Document Detail


Linkage analysis of candidate loci in autosomal dominant myotonia congenita.
MedLine Citation:
PMID:  1379356     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Electrophysiologic studies in patients with autosomal dominant myotonia congenita (ADMC) have implicated defects of both muscle membrane sodium and chloride channels. An adult skeletal muscle sodium channel (ASkM1) gene maps to chromosome 17q23-25, and defects in this gene are almost certainly responsible for at least three variants of hyperkalemic periodic paralysis (HPP)--myotonic HPP, nonmyotonic HPP, and paramyotonia congenita. A gene for a muscle chloride channel has not yet been mapped in humans, but has been identified in the mouse. The gene for the cystic fibrosis transmembrane regulator (CFTR), which has chloride channel properties, is located on chromosome 7q31. This region is syntenic with the area of mouse chromosome 6 that contains the muscle chloride channel gene, a defect in which is responsible for the ADR phenotype, a murine model of myotonia. We performed linkage analysis using chromosome 17q polymorphisms at D17S74, SCN4A, and GH1, two chromosome 7q31 restriction fragment length polymorphisms, and a dinucleotide repeat polymorphism within the CFTR gene (CFTR-DNR), in three pedigrees with ADMC. The lod scores obtained show that the locus for ADMC is not at ASkM1 and is excluded from a region of at least 24 cM on either side of the CFTR gene.
Authors:
J A Abdalla; W L Casley; A J Hudson; E G Murphy; H K Cousin; H A Armstrong; G C Ebers
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  42     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1992 Aug 
Date Detail:
Created Date:  1992-09-03     Completed Date:  1992-09-03     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1561-4     Citation Subset:  AIM; IM    
Affiliation:
Richard Ivey Centre for Molecular Biology, University Hospital, London, ON, Canada.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping*
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 7
Cystic Fibrosis Transmembrane Conductance Regulator
Genes
Genes, Dominant*
Humans
Linkage (Genetics)*
Membrane Proteins / genetics*
Muscles / metabolism
Myotonia Congenita / genetics*
Recombination, Genetic
Sodium Channels / genetics*
Chemical
Reg. No./Substance:
0/CFTR protein, human; 0/Membrane Proteins; 0/Sodium Channels; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

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