Evidence map›Paper›PMID 37575650›Full record

ArticleJournal of pediatric genetics2023

X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy.

Andreia Carvalho, Carmen Costa, Miguel Pinto, Ricardo Taipa, Ana Gonçalves, Márcia E Oliveira, Sofia Ferreira, Joana Afonso Ribeiro

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

Article in Journal of pediatric genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 96% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

8 authors at 4 institutions in 1 country.

Andreia CarvalhoNeurology Department, Centro Hospitalar de Vila Nova de Gaia-Espinho, Portugal.ORCID 0000-0002-6616-4011
Carmen CostaPediatric Neurology Department, Centro de Desenvolvimento da Criança, Hospital Pediátrico de Coimbra - Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Miguel PintoNeuropathology Unit, Hospital de Santo António - Centro Hospitalar Universitário do Porto, Porto, Portugal.
Ricardo TaipaNeuropathology Unit, Hospital de Santo António - Centro Hospitalar Universitário do Porto, Porto, Portugal.
Ana GonçalvesUnit for Multidisciplinary Research In Biomedicine, Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal.
Márcia E OliveiraUnit for Multidisciplinary Research In Biomedicine, Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal.
Sofia FerreiraPulmonology Department, Hospital Pediátrico de Coimbra - Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Joana Afonso RibeiroPediatric Neurology Department, Centro de Desenvolvimento da Criança, Hospital Pediátrico de Coimbra - Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Hospitais da Universidade de Coimbra · PTUniversidade do Porto · PTCentro Hospitalar de Vila Nova de Gaia · PTHospital de Santo António · PT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked myotubular myopathy (XLMTM), a centronuclear congenital myopathy secondary to pathogenic variants in the

Indexed as

centronuclear myopathymild phenotypeMTM1 genemyotubularinX-linked myotubular myopathy

Identifiers

PMID37575650
PMCPMC10421687
OpenAlexW3166376101

What OpenQuestion holds

Textmetadata
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.