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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Bibliographic Details
Published in:Eur J Hum Genet
Main Authors: Winston, Jincy, Duerden, Laura, Mort, Matthew, Frayling, Ian M, Rogers, Mark T, Upadhyaya, Meena
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2015
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Online Access: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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