Document Detail


Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.
MedLine Citation:
PMID:  7833925     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Congenital muscular dystrophies (CMD) are autosomal recessive, heterogeneous disorders. The commonest forms are the Fukuyama CMD (FCMD), associated with mental retardation and structural brain anomalies, and classical (occidental) CMD, with pure muscle expression. FCMD has been localized to chromosome 9q31-q33. Following the discovery of merosin deficiency in some CMD cases, we have localized, by homozygosity mapping and linkage analysis (Zmax = 5.6; theta = 0.0 for marker AFM127xb2) in four merosin-negative families a CMD gene in a 16 cM region of chromosome 6q2 in the region of the laminin M chain gene. In three consanguineous, merosin-positive, CMD families there was no linkage to either chromosome 6q2 or 9q31-q33.
Authors:
D Hillaire; A Leclerc; S Fauré; H Topaloglu; N Chiannilkulchaï; P Guicheney; L Grinas; P Legos; J Philpot; T Evangelista
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human molecular genetics     Volume:  3     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1994 Sep 
Date Detail:
Created Date:  1995-02-28     Completed Date:  1995-02-28     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1657-61     Citation Subset:  IM    
Affiliation:
Généthon, Evry, France.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping*
Chromosomes, Human, Pair 6*
Chromosomes, Human, Pair 9
Consanguinity
Female
Genetic Markers
Homozygote
Humans
Laminin / deficiency*,  genetics
Linkage (Genetics)
Male
Muscular Dystrophies / congenital*,  genetics*,  metabolism
Pedigree
Chemical
Reg. No./Substance:
0/Genetic Markers; 0/Laminin

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


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