Document Detail


New point mutations and deletions of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy.
MedLine Citation:
PMID:  7580242     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The purpose of this study was the identification of new mutations of the connexin 32 (CX32) gene in CMTX families. We report six new mutations of the CX32 gene including two medium sized (29 and 18 bp) deletions. The clinical phenotype is consistent with CMT peripheral neuropathy in all patients. Four families show both male and female patients, with more severe symptoms in males. The disease is asymptomatic in females in two families. The clinical deficit in CMTX families Nos 1, 2 and 4 with missense mutations of the CX32 gene was mild or moderate. Severe weakness of the feet and hands was present in CMTX family No. 5 with a G insertion and family No. 6 with a 29 bp deletion in the carboxyl terminal region of the CX32 gene. Most likely the severe clinical impact in those families was related to frame shift and premature termination of the protein.
Authors:
V Ionasescu; C Searby; R Ionasescu; W Meschino
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  5     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  1995 Jul 
Date Detail:
Created Date:  1995-11-27     Completed Date:  1995-11-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  297-9     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Charcot-Marie-Tooth Disease / genetics*,  physiopathology
Child
Connexins / genetics*
Electrophysiology
Female
Humans
Infant
Linkage (Genetics)*
Male
Point Mutation / genetics*
X Chromosome*
Chemical
Reg. No./Substance:
0/Connexins; 0/connexin 32

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


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