Myotonic Dystrophy Latest Advances

MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotility.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: December 11, 2025

Aberrant Splicing of Dnm1l Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1).

Journal: Circulation. Genomic and precision medicine

Published: November 10, 2025

Different operationalizations of the capability approach in evaluating rehabilitation for persons with neuromuscular diseases: a mixed-methods study.

Journal: Disability and rehabilitation

Published: November 01, 2025

Health-related quality of life, pain, and fatigue in myotonic dystrophy type 2: a 13-year follow-up study.

Journal: Disability and rehabilitation

Published: October 31, 2025

Massive Splenic Infarction: A Rare Entity in a Female Teenager.

Journal: Cureus

Published: October 27, 2025

287th ENMC international workshop: Harmonization and federated analysis of myotonic dystrophy registries to model heterogeneous disease trajectories. Hoofddorp, the Netherlands, 28-30 March 2025.

Journal: Neuromuscular disorders : NMD

Published: October 21, 2025

Predictors of respiratory failure and survival in myotonic dystrophy type 1.

Journal: Journal of neuromuscular diseases

Published: October 21, 2025

AAV-mediated DMPK silencing: A defining moment in myotonic dystrophy type 1 therapeutics.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: October 15, 2025

Corpus Callosum Diffusion Restriction in Neonatal Congenital Myotonic Dystrophy.

Journal: Cureus

Published: October 13, 2025

Reduced Muscular Carnosine in Proximal Myotonic Myopathy-A Pilot 1H-MRS Study.

Journal: Annals of clinical and translational neurology

Published: October 02, 2025