Article

Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing

2023-02-18

Abstract excerpt

<h4>ABSTRACT</h4> Fascioscapulohumeral muscular dystrophy (FSHD) is caused by a unique genetic mechanism that relies on contraction and hypomethylation of the D4Z4 macrosatellite array on the chromosome 4q telomere allowing ectopic expression of the DUX4 gene in skeletal muscle. Genetic analysis is difficult due to the large size and repetitive nature of the array, a nearly identical array on the 10q telomere, a...

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Literature Corpus work: b39ec531-dee5-563e-9260-fbec1564490c
DOI: 10.1101/2023.02.17.528868

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