Evidence map›Paper›PMID 34234810›Full record

ArticleFrontiers in genetics2021

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated

Annalisa Botta, Virginia Veronica Visconti, Luana Fontana, Paola Bisceglia, Mario Bengala, Roberto Massa, Ilaria Bagni, Rosanna Cardani, Federica Sangiuolo, Giovanni Meola and 5 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.4field-weighted citation impact, top 47% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 5 citations in OpenAlex.

  1. The novel (TCTG)Human genomics · 2026
    Article
  2. Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Review
  3. Article
  4. Epigenetics of Myotonic Dystrophies: A Minireview.International journal of molecular sciences · 2021
    Review
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 7 institutions in 1 country.

Annalisa BottaMedical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Virginia Veronica ViscontiMedical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Luana FontanaMedical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Paola BiscegliaLaboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.
Mario BengalaLaboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.
Roberto MassaNeuromuscular Disease Unit, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Ilaria BagniLaboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.
Rosanna CardaniBioCor Biobank, UOC SMEL-1 of Clinical Pathology, IRCCS-Policlinico San Donato, Milan, Italy.
Federica SangiuoloMedical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Giovanni MeolaDepartment of Biomedical Sciences for Health, University of Milan, Milan, Italy.
Giovanni AntoniniNeuromuscular and Rare Disease Center, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.
Antonio PetrucciCenter for Neuromuscular and Neurological Rare Diseases, S. Camillo Forlanini Hospital, Rome, Italy.
Elena PegoraroDepartment of Neuroscience, University of Padua, Padua, Italy.
Maria Rosaria D'ApiceLaboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.
Giuseppe NovelliMedical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
University of Rome Tor Vergata · ITCarlo Forlanini Hospital · ITCasa Sollievo della Sofferenza · ITIRCCS Policlinico San Donato · ITSapienza University of Rome · ITUniversity of Milan · ITUniversity of Padua · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)

Indexed as

alleles distributionCNBP premutationsDM2 genetic testingmyotonic dystrophy type 2penetrance

Identifiers

PMID34234810
PMCPMC8255792
OpenAlexW3176941261

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.