Document Detail

A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome.
MedLine Citation:
PMID:  7538206     Owner:  NLM     Status:  MEDLINE    
The slow-channel syndrome is one of several congenital myasthenic syndromes that result from inherited abnormalities of the ion channel of the skeletal muscle acetylcholine receptor (AChR). The ion channel is formed by the second transmembrane domains (M2) of the four AChR subunits. We screened the genomic DNA of one family with the slow-channel syndrome for mutations in the coding sequences for the M2 domains of the four AChR subunits and report the identification of a missense mutation that causes a leucine-to-phenylalanine substitution at position 269 of the epsilon subunit in three affected members of a family with the slow-channel syndrome. We propose that this mutation may be responsible for the disease.
C M Gomez; J T Gammack
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Neurology     Volume:  45     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1995 May 
Date Detail:
Created Date:  1995-06-15     Completed Date:  1995-06-15     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  982-5     Citation Subset:  AIM; IM    
Department of Neurology, University of Minnesota Medical School, Minneapolis, USA.
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MeSH Terms
Ion Channels / genetics*
Leucine / genetics
Myasthenia Gravis / congenital,  genetics*
Phenylalanine / genetics
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Receptors, Cholinergic / genetics*
Grant Support
Reg. No./Substance:
0/Ion Channels; 0/Receptors, Cholinergic; 61-90-5/Leucine; 63-91-2/Phenylalanine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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