Confirmation of the 2p Locus for the Mild Autosomal Recessive Limb-Girdle Muscular Dystrophy Gene (LGMD2B) in Three Families Allows Refinement of the Candidate Region

The mild autosomal recessive limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of muscle diseases. The first gene to be mapped and associated with this phenotype was a locus on 15q based on linkage analysis in families from a French geographic isolate. These results have been confirm...

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Bibliographic Details
Published in:Genomics (San Diego, Calif.) Calif.), 1995-05, Vol.27 (1), p.192-195
Main Authors: Passos-Bueno, M.Rita, Bashir, Ramaisa, Moreira, Eloisa S., Vainzof, Mariz, Marie, Suely K., Vasquez, Luciana, Iughetti, Paula, Bakker, Egbert, Keers, Sharon, Stephenson, Anthea, Strachan, Tom, Mahneh, Ibrahim, Weissenbach, Jean, Bushby, Katharine, Zatz, Mayana
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Mapping
Chromosomes, Human, Pair 2
Diseases of striated muscles. Neuromuscular diseases
Female
Genes, Recessive
Haplotypes - genetics
Humans
Lod Score
Male
Medical sciences
Muscular Dystrophies - classification
Muscular Dystrophies - genetics
Neurology
Pedigree
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Summary:The mild autosomal recessive limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of muscle diseases. The first gene to be mapped and associated with this phenotype was a locus on 15q based on linkage analysis in families from a French geographic isolate. These results have been confirmed in other populations, but it was shown that there is genetic heterogeneity for this form of LGMD. Recently, a second locus has been mapped to chromosome 2p. The confirmation of the mapping of this second locus in LGMD families from different populations is of utmost importance for the positional cloning of this gene (HGMW-approved symbol LGMD2B). In this publication, haplotypes generated from five chromosome 2 markers from all of the known large families linked to chromosome 2p are reported together with the recombinants that show the current most likely location of the LGMD 2B gene.
ISSN:0888-7543
1089-8646
DOI:10.1006/geno.1995.1024