| Autor: |
van der Kooi, A. J., van Meegen, M., Ledderhof, T. M., McNally, E. M., de Visser, M., Bolhuis, P. A. |
| Přispěvatelé: |
Other departments |
| Jazyk: |
angličtina |
| Rok vydání: |
1997 |
| Předmět: |
|
| Zdroj: |
American journal of human genetics, 60(4), 891-895. Cell Press |
| ISSN: |
0002-9297 |
| Popis: |
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 |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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