Document Detail


Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a).
MedLine Citation:
PMID:  8492918     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The most frequently found mutation in autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) is a large duplication on chromosome 17p11.2 containing probes VAW409R3, VAW412R3, and EW401. We investigated a family with severe features of HMSN I, and demonstrated the absence of this duplication by a quantitative analysis of the hybridization signals of VAW409R3 and VAW412R3. Linkage analysis, however, revealed linkage with probe VAW409R3a (lod score, 3.22), which demonstrates the existence of allelic heterogeneity within the HMSN Ia locus. These findings have implications for clinical practice and for investigating the identity of the HMSN Ia gene.
Authors:
J E Hoogendijk; E A Janssen; A A Gabreëls-Festen; G W Hensels; E M Joosten; F J Gabreëls; I Zorn; L J Valentijn; F Baas; B W Ongerboer de Visser
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  43     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1993 May 
Date Detail:
Created Date:  1993-06-11     Completed Date:  1993-06-11     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1010-5     Citation Subset:  AIM; IM    
Affiliation:
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Adult
Alleles
Blotting, Southern
Charcot-Marie-Tooth Disease / genetics*,  physiopathology*
Chromosome Mapping
Chromosomes, Human, Pair 17*
DNA / blood,  genetics,  isolation & purification
Female
Genetic Markers
Humans
Male
Multigene Family
Mutation*
Pedigree
Restriction Mapping
Chemical
Reg. No./Substance:
0/Genetic Markers; 9007-49-2/DNA

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


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