ReviewFrontiers in neurology2018
Core Clinical Phenotypes in Myotonic Dystrophies.
Review in Frontiers in neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03603171 (Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures), which is not on this map. Cited by 94 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures
Who cites it
94 citing papers in PubMed, 4 syntheses or guidelines pooled it, 148 citations in OpenAlex.
- Cognitive decline over time in myotonic dystrophy type 1: a systematic review of longitudinal studies.Frontiers in neurology · 2026Pooled it
- Non-invasive mechanical ventilation for chronic hypoventilation in myotonic dystrophy.The Cochrane database of systematic reviews · 2025Pooled it
- Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy.The Cochrane database of systematic reviews · 2024Pooled it
- Protein Phosphorylation Alterations in Myotonic Dystrophy Type 1: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Natural History of Adult-Onset Myotonic Dystrophy Type 1: Longitudinal Changes in Radiologic, Clinical, and Patient-Reported Outcomes.Neurology · 2026Article
- MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1.Nature communications · 2026Article
- Generation and characterization of two human induced pluripotent stem cell lines from myotonic dystrophy type 1 patients.Stem cell research · 2026Article
- 3D Radiomic Texture Analysis of Quantitative Muscle MRI Enhances the Distinction Between Myotonic Dystrophy Type 1 and Charcot-Marie-Tooth Neuropathy Type 1A: A Proof-of-Concept Study.European journal of neurology · 2026Article
- Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development.JIMD reports · 2026Article
- Therapeutic Strategies Targeting the Molecular Pathogenesis of Myotonic Dystrophy Type 1: Current Status and Future Directions.Molecular diagnosis & therapy · 2026Review
- Exploring the impact of myotonia on daily functioning in myotonic dystrophy: a patient-reported survey.BMC neurology · 2026Article
- Current biomarker development in myotonic dystrophies.Journal of neurology · 2026Review
- Successful Minimally Invasive Mitral Valve Repair and Maze Procedure in a Patient With Myotonic Dystrophy.Cureus · 2026Article
- Changes in RNA splicing as a surrogate endpoint for myotonic dystrophy Type 1 (DM1) clinical trials.Journal of neuromuscular diseases · 2026Review
- Commitment to Myogenic Differentiation Significantly Aggravates the RNA Phenotype in Myotonic Dystrophy Type 1.Neuropathology and applied neurobiology · 2026Article
- Quantitative Magnetic Resonance Imaging of the Forearm in Myotonic Dystrophy Type 1.Tomography (Ann Arbor, Mich.) · 2025Article
- A 12-Week Strength Training Improves Mitochondrial Respiration, HActa physiologica (Oxford, England) · 2025Article
- Cardiac Involvement in Myotonic Dystrophy Type 1: Mechanisms, Clinical Perspectives, and Emerging Therapeutic Strategies.International journal of molecular sciences · 2025Review
- Local Non-Coding Regulatory Elements in Muscular Dystrophies.International journal of molecular sciences · 2025Review
- Differential pathology and susceptibility to MBNL loss across muscles in myotonic dystrophy mouse models.JCI insight · 2025Article
34 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood. They are progressive, autosomal dominant diseases caused by an abnormal expansion of an unstable nucleotide repeat located in the non-coding region of their respective genes DMPK for DM1 and CNBP in DM2. Clinically, these multisystemic disorders are characterized by a high variability of muscular and extramuscular symptoms, often causing a delay in diagnosis. For both subtypes, many symptoms overlap, but some differences allow their clinical distinction. This article highlights the clinical core features of myotonic dystrophies, thus facilitating their early recognition and diagnosis. Particular attention will be given to signs and symptoms of muscular involvement, to issues related to respiratory impairment, and to the multiorgan involvement. This article is part of a Special Issue entitled "Beyond Borders: Myotonic Dystrophies-A European Perception."
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.