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Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy

12 Sept 2022

Abstract excerpt

Genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD) remains a challenge in clinical practice as it cannot be detected by standard sequencing methods despite being the third most common muscular dystrophy. The conventional diagnostic strategy addresses the known genetic parameters of FSHD: the required presence of a permissive haplotype, a size reduction of the D4Z4 repeat of chromosome 4q35...

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PMID: 36100962
DOI: 10.1093/brain/awac336

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Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophyPMID 36100962Read ↗

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