Article

Hypomethylation of contracted D4Z4 repeats in facioscapulohumeral muscular dystrophy

2022-06-27

Abstract excerpt

<h4>Summary</h4> Facioscapulohumeral muscular dystrophy (FSHD) can be subdivided into two types: FSHD1, caused by contraction of the D4Z4 repeat on chromosome 4q35, and FSHD2, caused by mild contraction of the D4Z4 repeat plus aberrant hypomethylation mediated by genetic variants in SMCHD1, DNMT3B , or LRIF1 . Genetic diagnosis of FSHD is challenging because of the complex procedures required. Here, we applied Nan...

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Literature Corpus work: 5cd5524d-5f24-5522-9e38-fd839c7ba136
DOI: 10.1101/2022.06.24.22276750

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