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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12
Brain, Volume 130, No. 2, Year 2007
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Description
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of pathologies. We have identified a cohort of 14 French-Canadian patients from eight different families displaying a novel form of LGMD with an autosomal recessive inheritance. These patients share some features with previously described cases of 'quadriceps myopathy' that evolved into an LGMD. All demonstrate quadriceps femoris asymmetrical atrophy. Creatine kinase values were variable from normal to 6000 U/l. Clinical evaluations and MRI studies demonstrate a variable intrafamilial and interfamilial phenotype. Asymmetrical muscle involvement was clinically observed and confirmed by imaging. MRI studies suggest that the hamstrings and the adductor magnus are the first limb muscles to demonstrate fatty infiltration. Muscle pathology shows no sign of active inflammation but increased endomysial connective tissue associated with basal lamina duplication and collagen disorganization. A genome-wide scan using the two largest families uncovered linkage to marker D11S1360 on chromosome 11p12 [multipoint logarithm of the odds (LOD) score of 2.78]. Further genotyping for the eight families confirmed linkage to this new LGMD locus (multipoint LOD score of 4.56). Fine mapping subsequently defined a less than 3.3 cM candidate interval on 11p13-p12. Haplotype analysis of carrier chromosomes suggests that the most frequent mutation may account for up to 81.3% of French-Canadian mutations. In this study, we describe the chromosomal locus of a new form of recessive LGMD with prominent quadriceps femoris atrophy. © The Author (2006). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved.
Authors & Co-Authors
Bolduc, Véronique
Canada, Montreal
University of Montreal
Robitaille, Yves Yves
Canada, Montreal
Chu Sainte-justine - le Centre Hospitalier Universitaire Mère-enfant
Thiffault, Isabelle
Canada, Montreal
University of Montreal
Tétreault, Martine
Canada, Montreal
University of Montreal
Bouchard, Jean Pierre
Canada, Quebec
Université Laval
Brais, Bernard
Canada, Montreal
University of Montreal
Statistics
Citations: 47
Authors: 6
Affiliations: 4
Identifiers
Doi:
10.1093/brain/awl270
ISSN:
00068950
Research Areas
Cancer
Disability
Genetics And Genomics
Study Design
Cohort Study