Abstract:
:The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classified as LGMD2. Based on results of eight out of 11 large Brazilian LGMD families of different racial background (which were informative for the closest available probe to the LGMD2 gene), we confirmed linkage to the LGMD2 gene at 15q in two of these families and exclusion in six others. These data provide the first evidence of genetic heterogeneity for the autosomal recessive limb-girdle muscular dystrophies.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Passos-Bueno MR,Richard I,Vainzof M,Fougerousse F,Weissenbach J,Broux O,Cohen D,Akiyama J,Marie SK,Carvalho AAdoi
10.1136/jmg.30.5.385subject
Has Abstract,Author List Incompletepub_date
1993-05-01 00:00:00pages
385-7issue
5eissn
0022-2593issn
1468-6244journal_volume
30pub_type
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journal_title:Journal of medical genetics
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doi:
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更新日期:1976-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:1983-06-01 00:00:00
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