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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Van Der Kooi, A. J. Ledderhof, T. M. Van Meegen, M. de Visser, M. McNally, E. M. Bolhuis, P. A. |
| Description | Country affiliation: Netherlands Author Affiliation: van der Kooi AJ ( Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.) |
| Abstract | Limb-girdle muscular dystrophy (LGMD) constitutes a clinically and genetically heterogeneous group of myogenic disorders with a limb-girdle distribution of weakness. One autosomal dominant family, LGMD1A, has been linked to chromosome 5q, whereas in other autosomal dominant families linkage to this chromosome has been excluded. We studied 58 members of three families with a newly recognized autosomal dominantly inherited LGMD with cardiac involvement. A search with highly polymorphic microsatellite markers was carried out. The gene for this newly recognized dominant form of LGMD was located on chromosome 1q11-21, with a combined maximum two-point LOD score >12 at theta = 0. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 4 |
| Volume Number | 60 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1997-04-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Chromosome Mapping Chromosomes, Human, Pair 1 Genetics Genes, Dominant Heart Diseases Muscular Dystrophies Adolescent Genetic Markers Lod Score Microsatellite Repeats Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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