Document Detail


A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.
MedLine Citation:
PMID:  16760198     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Congenital muscular dystrophies (CMDS) are a heterogeneous group of disorders. A growing number of CMDS have been found to be associated with joint hyperlaxity. We recruited 14 French-Canadian cases belonging to 11 families affected by a novel autosomal recessive congenital muscular dystrophy with hyperlaxity (CMDH). All cases come from the southwestern part of Quebec, suggesting a new French-Canadian founder effect. All patients present muscle weakness, proximal contractures coexisting with distal joint hyperlaxity. Pathological and genetic studies have excluded that mutations in the three genes coding for collagen VI subunits are responsible for this disease. A genome-wide scan established linkage of two CMDH families to a region on chromosome 3p23-21. Further linkage analysis confirmed that all families are linked to the same region (log of the odds score of 5.3). Haplotype analysis defines a 1.6-cM candidate interval and suggests that two common mutations may account for 78% of carrier chromosomes. This study describes and maps a new form of recessive CMD with joint hyperlaxity distinct from Ullrich and Bethlem myopathies with a founder effect in the French-Canadian population.
Authors:
M Tétreault; A Duquette; I Thiffault; C Bherer; J Jarry; L Loisel; B Banwell; G D'Anjou; J Mathieu; Y Robitaille; M Vanasse; B Brais
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-06-07
Journal Detail:
Title:  Brain : a journal of neurology     Volume:  129     ISSN:  1460-2156     ISO Abbreviation:  Brain     Publication Date:  2006 Aug 
Date Detail:
Created Date:  2006-07-27     Completed Date:  2006-09-29     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0372537     Medline TA:  Brain     Country:  England    
Other Details:
Languages:  eng     Pagination:  2077-84     Citation Subset:  AIM; IM    
Affiliation:
Laboratoire de neurogénétique, Center for the study of brain diseases, Centre de recherche du CHUM Montreal, Québec, Canada.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Chromosome Mapping / methods
Chromosomes, Human, Pair 3 / genetics*
Collagen Type VI / deficiency,  genetics
Female
Haplotypes
Humans
Joint Instability / complications,  genetics*
Linkage (Genetics)
Male
Muscle Fibers, Skeletal / pathology
Muscular Dystrophies / complications,  congenital,  genetics*,  pathology
Mutation
Pedigree
Phenotype
Chemical
Reg. No./Substance:
0/Collagen Type VI

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


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