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Lookup NU author(s): Emerita Professor Katherine Bushby
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The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders, which present within the first 6 months of life with hypotonia, muscle weakness and contractures, associated with dystrophic changes on skeletal muscle biopsy. We have previously reported a large consanguineous family segregating merosin-positive congenital muscular dystrophy, in which involvement of known CMD loci was excluded. A genome-wide linkage search of the family conducted using microsatellite markers spaced at 10-Mb intervals failed to identify a disease locus. A second scan using a high-density SNP array, however, permitted a novel CMD locus on 4p16.3 to be identified (multipoint LOD score 3.4). Four additional consanguineous CMD families with a similar phenotype were evaluated for linkage to a 4.14-Mb interval on 4p16.3; however, none showed any evidence of linkage to the region. Our findings further illustrate the utility of highly informative SNP arrays compared with standard panels of microsatellite markers for the mapping of recessive disease loci. © Springer-Verlag 2005.
Author(s): Sellick GS, Longman C, Brockington M, Mahjneh I, Sagi L, Bushby K, Topaloglu H, Muntoni F, Houlston RS
Publication type: Article
Publication status: Published
Journal: Human Genetics
Year: 2005
Volume: 117
Issue: 2-3
Pages: 207-212
ISSN (print): 0340-6717
ISSN (electronic): 1432-1203
Publisher: Springer
URL: http://dx.doi.org/10.1007/s00439-005-1301-4
DOI: 10.1007/s00439-005-1301-4
PubMed id: 15886997
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