ReviewCurrent neurology and neuroscience reports2002
Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.
Review in Current neurology and neuroscience reports, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 92 citations in OpenAlex.
- Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis.Muscle & nerve · 2018Pooled it
- Assisted annotation in Deep LOGISMOS: Simultaneous multi-compartment 3D MRI segmentation of calf muscles.Medical physics · 2023Article
- Molecular mechanisms underlying nucleotide repeat expansion disorders.Nature reviews. Molecular cell biology · 2021Review
- Myotonic dystrophy type 2: the 2020 update.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Article
- Benign tumors in myotonic dystrophy type I target disease-related cancer sites.Annals of clinical and translational neurology · 2019Article
- Cancer Risk in Myotonic Dystrophy Type I: Evidence of a Role for Disease Severity.JNCI cancer spectrum · 2018Article
- Identification of Insulin Receptor Splice Variant B in Neurons by in situ Detection in Human Brain Samples.Scientific reports · 2018Article
- Benign and malignant tumors in the UK myotonic dystrophy patient registry.Muscle & nerve · 2018Article
- Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions.Molecules (Basel, Switzerland) · 2017Review
- Investigation of the molecular mechanisms underlying myotonic dystrophy types 1 and 2 cataracts using microRNA‑target gene networks.Molecular medicine reports · 2017Article
- Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia.SAGE open medical case reports · 2017Article
- Ophthalmic manifestations of inherited neurodegenerative disorders.Nature reviews. Neurology · 2014Review
- Recent advances in myotonic dystrophy type 2.Current neurology and neuroscience reports · 2014Review
- Clinical and molecular research of neuroacanthocytosis.Neural regeneration research · 2013Article
- Quantifying cancer absolute risk and cancer mortality in the presence of competing events after a myotonic dystrophy diagnosis.PloS one · 2013Article
- Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.European journal of human genetics : EJHG · 2012Article
- Correlates of tumor development in patients with myotonic dystrophy.Journal of neurology · 2012Article
- Myotonic dystrophy: is a narrow focus obscuring the rest of the field?Current opinion in neurology · 2012Review
- If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).Contemporary clinical trials · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myotonic dystrophy (DM) is a dominantly inherited disorder with a peculiar pattern of multisystemic clinical features affecting skeletal muscle, the heart, the eye, and the endocrine system. Two genetic loci have been associated with the DM phenotype: DM1 on chromosome 19, and DM2 on chromosome 3. In 1992, the mutation responsible for DM1 was identified as a CTG expansion located in the 3' untranslated region of the dystrophica myotonica-protein kinase gene (DMPK). How this untranslated CTG expansion causes DM1 has been a matter of controversy. The recent discovery that DM2 is caused by an untranslated CCTG expansion, along with other discoveries on DM1 pathogenesis, indicate that the clinical features common to both diseases are caused by a gain of function RNA mechanism in which the CUG and CCUG repeats alter cellular function, including alternative splicing of various genes.
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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.