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CCG interruptions are unstable and hypermethylated in DM1 patients

2024-10-10

Abstract excerpt

Myotonic dystrophy type 1 (DM1) exhibits highly heterogeneous clinical manifestations caused by an unstable CTG repeat expansion reaching up to 4,000 CTG. The dynamics of CTG repeats and clinical variability depends on the CTG repeat number, CNG repeat interruptions, DNA methylation, somatic mosaicism, but also gene modifiers. Around 10% of the DM1 population carries triplet repeat interruptions (CCG, CGG, CTC, CA...

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Literature Corpus work
b16d6173-1843-5a29-9059-e4aa225d062a
DOI
10.1101/2024.10.10.617614
Open publication

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CCG interruptions are unstable and hypermethylated in DM1 patientsDOI 10.1101/2024.10.10.617614
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