Article

Complex associations of genetic/epigenetic variations of CGG repeats with patient phenotypes in oculopharyngodistal myopathy

2025-05-15

Abstract excerpt

Oculopharyngodistal myopathy (OPDM) is caused by CGG triplet repeat expansions in six genes. To explore the genetics and epigenetics of OPDM, we conducted CRISPR/Cas9-targeted resequencing of repeat regions in 89 patients. Repeat regions essentially comprised pure CGG expansions, but exhibited size variability, even within patients. Expanded LRP12 and GIPC1 alleles showed distinct single nucleotide variant pattern...

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Literature Corpus work: 6f148e33-62b0-5e6f-aab6-b6bd19bc2efd
DOI: 10.1101/2025.05.13.25327490

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