Evidence map›Paper›PMID 34355126›Full record

ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2021

A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.

Ricardo Santin, Igor Araujo Vieira, Jean Costa Nunes, Maria Luiza Benevides, Fernanda Quadros, Ana Carolina Brusius-Facchin, Gabriel Macedo, Ana Paula Santin Bertoni

Open access · greenAbstract readCase Reports
In one paragraph

Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2021. 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 93% 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 2 institutions in 1 country.

Ricardo SantinSanta Casa de Misericórdia de Porto Alegre, (ISCMPA), Porto Alegre, Rio Grande do Sul, Brazil.
Igor Araujo VieiraPrograma de Pós Graduação em Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil.
Jean Costa NunesNeurodiagnostic Brazil - Floranópolis, Santa Catarina (SC), Brazil.
Maria Luiza BenevidesDepartmento de Neurologia, Hospital Governador Celso Ramos, Santa Catarina (SC), Brazil.
Fernanda QuadrosSanta Casa de Misericórdia de Porto Alegre, (ISCMPA), Porto Alegre, Rio Grande do Sul, Brazil.
Ana Carolina Brusius-FacchinServiço de Genética Médica, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.
Gabriel MacedoLaboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.
Ana Paula Santin BertoniDepartamento de Ciências Básicas da Saúde and Laboratório de Biologia Celular, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.
Hospital de Clínicas de Porto Alegre · BRUniversidade Federal de Ciências da Saúde de Porto Alegre · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic germline variants in

Indexed as

DystrophinMuscular Dystrophy, DuchenneGenetic TestingHumansIntronsMutationPhenotypeDystrophinDMD genedystrophinopathiesintronic sequence variantmuscular dystrophy

Identifiers

PMID34355126
PMCPMC8290513
OpenAlexW3182627782

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.