Article

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies

2025-12-08

Abstract excerpt

Inherited myopathies are a group of disorders with diverse and complex genetic aetiologies. The causative genetic variants vary widely in type, size and sequence context, encompassing small sequence variants and large structural variants in protein-coding genes, mitochondrial variants, repeat expansions, and more complex events, such as the chromosome 4 D4Z4 macrosatellite contraction and hypomethylation that caus...

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Literature Corpus work: 9f00083d-e4c0-5d34-8ad2-a9b1fe6a14c4
DOI: 10.64898/2025.12.06.25340828

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