Article

Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing

2022-02-22

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 clinical variability depends on CTG repeat number, CNG repeat interruptions and somatic mosaicism. Currently, none of these factors are simultaneously and accurately determined due to the limitations of gold standard methods used in clinical and research lab...

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Literature Corpus work: d370e15c-6305-5c51-a2a5-fc45f0e08c8f
DOI: 10.1101/2022.02.22.481438

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