Key result
Genomewide scanning of 14 French-Canadian patients mapped a novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy to chromosome 11p13-p12 (multipoint LOD score 4.56).
Population
14 French-Canadian patients from 8 different families displaying a novel form of limb-girdle muscular…
Design
Cohort
Authors
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Defines new LGMD locus on 11p13-p12 in founder population; leaves open causative gene identification and diagnostic utility.
Cohort (n=14)
Effect estimate: LOD score 4.56
A novel autosomal recessive limb-girdle muscular dystrophy characterized by prominent quadriceps femoris atrophy maps to a candidate interval on chromosome 11p13-p12.
Jarry et al. (2006) conducted a cohort in Limb-girdle muscular dystrophy (n=14). Genomewide scanning of 14 French-Canadian patients mapped a novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy to chromosome 11p13-p12 (multipoint LOD score 4.56).
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