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Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy
Facioscapulohumeral muscular dystrophy 1 (FSHD1) is caused by a contraction in the number of D4Z4 repeats on chromosome 4, resulting in relaxation of D4Z4 chromatin causing inappropriate expression of DUX4 in skeletal muscle. Clinical severity is inversely related to the number of repeats. In contra...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4266742/ https://ncbi.nlm.nih.gov/pubmed/24755953 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.58 |
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