Our new systematic review by Landfeldt et al on health-related quality of life in myotonic dystrophy type 1 (DM1) is now available online. DM1 is the most common muscular dystrophy…

…disease where treatments are available. Please view the presentations below and get in touch if you’re interested! Presentation 1 – Antonio Atalaia – introduction Presentation 2 – Gisèle Bonne –…

…half of all the articles are open access, with this latest issue containing a range of reviews and research papers. Of note for the Lochmüller Lab is the publication Distinct…

…kinase agonist antibody treatment for Agrn Congenital Myasthenia Syndromes (Dr Sally Spendiff) Exercise impact on insulin resistance in Myotonic Dystrophy Type 1 (Ofosu Adjei-Afriyie) Integration of a best practice advisory…

…significantly varies in all cohorts, with 20% of variability explained by the GNE mutation. Atypical symptoms and clinical presentation suggest that physical and instrumental examination should include additional clinical tests….

…being counted one or multiple times. A new publication by König et al provides an interesting demonstration of techniques for de-duplicating such patient records using a computational method that involves…

…and traditional techniques including comprehensive neurological evaluation, histopathology, and biochemistry continue to have a crucial role in diagnostics. For optimal diagnosis, prognosis, and precision medicine, no single ruling technology exists….