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

Author:

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

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference35 articles.

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3. DM1 phenotype variability and triplet repeat instability: challenges in the development of new therapies;Tomé;Int J Mol Sci,2020

4. Unravelling the myotonic dystrophy type 1 clinical spectrum: a systematic registry-based study with implications for disease classification;De Antonio;Revue Neurol (Paris),2016

5. Anticipation in myotonic dystrophy: new light on an old problem;Harper;Am J Hum Genet,1992

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