This study shows that removing a specific splice variant of ClC-1 in a DM1 mouse model eliminates myotonia and improves muscle function and histology.

bioRxiv · Sep 19, 2025 · PreprintPhysiology

The Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1

Marina Provenzano, Kobe Ikegami, Kameron Bates, Alison Gaynor, Julia M. Hartman, Aileen S. Jones, Amanda Butler, Kiera N. Berggren, Jeanne M. Dekdebrun, Man Hung, Dana M. Lapato, Michael Kiefer, Charles A. Thornton, Nicholas Elwood Johnson, Melissa A. Hale

The paper introduces the Myotonic Dystrophy Splice Index (SI) as a biomarker that correlates with muscle strength and mobility in DM1 patients.

Journal of Clinical Investigation · Jan 7, 2025Peer-reviewedMolecular Biology

Transcriptome Alterations in Myotonic Dystrophy Frontal Cortex

Brittney A. Otero, Kiril Poukalov, Ryan P. Hildebrandt, Charles A. Thornton, Kenji Jinnai, Harutoshi Fujimura, Takashi Kimura, Katharine A. Hagerman, Jacinda B. Sampson, John Day, Eric T. Wang

The paper analyzes RNA-seq transcriptomes from frontal cortex tissue of DM1 and DM2 patients to identify splicing changes and their implications for CNS dysfunction.

Cell Reports · Jan 1, 2021Peer-reviewedGenetics

Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial

Adam Kurkiewicz, Anneli Cooper, Emily McIlwaine, Sarah A. Cumming, Berit Adam, Ralf Krahe, Jack Puymirat, Benedikt G. H. Schoser, Lubov Timchenko, Tetsuo Ashizawa, Charles A. Thornton, Simon Rogers, John McClure, Darren G. Monckton

The paper develops a statistical framework to evaluate mRNA biomarkers for DM1 treatment efficacy using machine learning and microarray data.

PLoS ONE · Apr 14, 2020Peer-reviewedBioinformatics