Genetic heterogeneity of limb-girdle muscular dystrophy in Amish populations
Journal Article
·
· American Journal of Human Genetics
OSTI ID:133366
- CEPH, Paris (France); and others
The autosomal recessive form of limb-girdle muscular dystrophy (LGMD2) is characterized by onset in childhood, progressive weakness predominantly of shoulder, pelvic and trunk muscles with sparing of facial muscles. A gene for LGMD2 was localized to chromosome 15q by Beckmann et al. in 1991 in Isle La Reunion families, subsequently confirmed in Amish families and in Brazilian families where genetic heterogeneity has been demonstrated. Analysis of LGM2 families for recombination events permitted the gene region to be restricted to an interval of about 7 cM defined by flanking markers D15S129 and D15S143. Extended haplotypes were established in the families on the basis of the segregation of multiple markers within this interval. Although the nine northern Indiana Amish families showed linkage of the gene to chromosome 15 markers (maximum lod score of 7.58 at {theta}=0.06 for D15S129 and 12.57 at {theta}=0.046 for D15S143), six large southern Indiana families with LGMD2, clinically indistinguishable from the LGMD2 in northern Indiana, were found to have a disease neither linked to chromosome 15 nor to chromosome 2 where a second localization has been reported. Although these two Indiana Amish LGMD2 kindreds contain some common ancestors and are clinically similar, the LGMD2 appears to be genetically heterogeneous.
- OSTI ID:
- 133366
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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Thu Sep 01 00:00:00 EDT 1994
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·
OSTI ID:134693
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Thu Jun 01 00:00:00 EDT 1995
· American Journal of Human Genetics
·
OSTI ID:91194
Confirmation of the 2p locus for the mild autosomal recessive lim-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region
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·
Mon May 01 00:00:00 EDT 1995
· Genomics
·
OSTI ID:114903