Article

A human pan-genomic analysis reconfigures the genetic and epigenetic make up of facioscapulohumeral muscular dystrophy

2023-06-20

Abstract excerpt

<h4>ABSTRACT</h4> Facioscapulohumeral muscular dystrophy (FSHD) is the only human disease associated with epigenetic changes at a macrosatellite array. Almost 95% of FSHD cases carry a reduced number (≤10) of tandem 3.3 kilobase repeats, termed D4Z4, on chromosome 4q35; remaining cases bear variants in chromatin remodeling factors, such as SMCHD1, DNMT3B, LRIF1. Reduced CpG methylation is used for the molecular di...

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Literature Corpus work: c2bf7d35-7167-5f47-9410-1e7a42cdca5b
DOI: 10.1101/2023.06.13.23291337

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