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FSHD: copy number variations on the theme of muscular dystrophy
In humans, copy number variations (CNVs) are a common source of phenotypic diversity and disease susceptibility. Facioscapulohumeral muscular dystrophy (FSHD) is an important genetic disease caused by CNVs. It is an autosomal-dominant myopathy caused by a reduction in the copy number of the D4Z4 mac...
| Autores principales: | , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
The Rockefeller University Press
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002039/ https://www.ncbi.nlm.nih.gov/pubmed/21149563 http://dx.doi.org/10.1083/jcb.201007028 |