Evidence map›Paper›PMID 30208955›Full record

ArticleActa neuropathologica communications2018

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.

Valérie Biancalana, Norma B Romero, Inger Johanne Thuestad, Jaakko Ignatius, Janne Kataja, Maria Gardberg, Delphine Héron, Edoardo Malfatti, Anders Oldfors, Jocelyn Laporte

Open access · goldAbstract readLetter
In one paragraph

Article in Acta neuropathologica communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.6field-weighted citation impact, top 31% 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

7 citing papers in PubMed, 18 citations in OpenAlex.

  1. A novelFrontiers in genetics · 2025
    Article
  2. Article
  3. Article
  4. Phenotypic Spectrum ofNeurology. Genetics · 2022
    Article
  5. Review
  6. Article
  7. Panorama of the distal myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020
    Review
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

10 authors at 5 institutions in 4 countries.

Valérie BiancalanaLaboratoire Diagnostic Génétique, Faculté de Médecine, CHRU, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091, Strasbourg, France. valerie.biancalana@chru-strasbourg.fr.ORCID 0000-0002-8988-5508
Norma B RomeroCenter for Research in Myology, GH Pitie-Salpêtrière, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris, France.
Inger Johanne ThuestadDepartment of Pediatrics, Skane University Hospital, Malmo, Sweden.
Jaakko IgnatiusDepartment of Clinical Genetics, Turku University Hospital, Turku, Finland.
Janne KatajaDepartment of Paediatrics and Adolescent Medicine, Turku University Hospital, Turku, Finland.
Maria GardbergDepartment of Pathology, Turku University Hospital and Institute of Biomedicine, Turku University, Turku, Finland.
Delphine HéronService de Génétique clinique et Médicale, CHU Paris-GH La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
Edoardo MalfattiNeuromuscular Morphology Unit, Myology Institut, GH La Pitié-Salpêtrière, Paris, France.
Anders OldforsDepartment of Pathology, and Genetics, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
Jocelyn LaporteInstitut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, France.
Centre National de la Recherche Scientifique · FRTurku University Hospital · FIAssistance Publique – Hôpitaux de Paris · FRSahlgrenska University Hospital · SESkåne University Hospital · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Dynamin IIDynaminsFemaleHumansInfantMaleModels, MolecularMuscle, SkeletalMutationMyopathies, Structural, CongenitalPhenotypeProtein Tyrosine Phosphatases, Non-ReceptorDNM2 protein, humanDynamin IIDynaminsmyotubularinProtein Tyrosine Phosphatases, Non-ReceptorCentronuclear myopathyCongenital myopathyDNM2HypotoniaMTM1

Identifiers

PMID30208955
PMCPMC6134552
OpenAlexW2889630405

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.