Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus |
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| Authors: | Allamand, V. Broux, O. Bourg, N. Richard, I. Tischfield, J.A. Hodes, M.E. Conneally, P.M. Fardeau, M. Jackson, C.E. Beckmann, J.S. |
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| Affiliation: | 1Généthon 1 rue de I'Internationale, BP60, 91002 Evry, USA 2Fondation Jean Dausset/CEPH 27 rue Juliette Dodu, 75010 Paris, France 3Indiana University School of Medicine 975 West Walnut Street, Indianapolis, IN 46202-5251, USA 4Institut National de la Santé et de la Recherche Médicale, U153, and Centre National de la Recherche Scientifique 17 rue du Fer à Moulin, 75005 Paris, France 5Division of Clinical and Molecular Genetics, Henry Ford Hospital Detroit, MI 48202, USA |
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| Abstract: | Limb-girdle muscular dystrophy (LGMD) is a hereditary myopathypresenting clinical and genetic hetero geneity. In 1991, a recessiveform (LGMD2A) was linked to chromosome 15q in a genetic isolatefrom the Isle of La Réunion. Confirmation of this localizationwas subsequently reported in Brazilian and northern IndianaAmish pedigrees. Here we report the exclusion of the LGMD2Alocus in six Amish kindreds from southern Indiana that are relatedby multiple consanguineous links to the same northern Indianafamilies in which the involvement of the chromosome 15 locuswas previously demonstrated. These findings indicate unexpectedgenetic hetero geneity of LGMD in an Indiana Amish isolate.Further more, genetic analyses also ruled out the possible involvementof the chromosome 2 locus recently described (LGMD2B), thusdemonstrating that a mutation within at least one additionallocus leads to this condition. Several candidate genes putativelyinvolved in neuromuscular disorders were also excluded. |
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