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Article

Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing.

The Journal of molecular diagnostics : JMD - 1 Nov 2022

Tsai Yu-Chih, de Pontual Laure, Heiner Cheryl, Stojkovic Tanya, Furling Denis, Bassez Guillaume, Gourdon Geneviève, Tomé Stéphanie

Abstract excerpt

Myotonic dystrophy type 1 (DM1) exhibits highly heterogeneous clinical manifestations caused by an unstable CTG repeat expansion reaching up to 4000 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...

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PMID: 36084803
DOI: 10.1016/j.jmoldx.2022.08.003

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Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing.PMID 36084803Read ↗

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