Evidence map›Paper›PMID 40831153›Full record

ArticleJournal of neuromuscular diseases2026

Recurrent nonsense p.Trp3416* variant in the

Eliane Chouery, Cybel Mehawej, Serena Youssef, Yasmina Sfeir, Sandra Corbani, Rima Korban, France Leturcq, J Andoni Urtizberea, Andre Megarbane

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2026. 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
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.

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

9 authors.

Eliane ChoueryDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.ORCID 0000-0002-6257-6609
Cybel MehawejDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Serena YoussefGilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Yasmina SfeirGilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Sandra CorbaniDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.ORCID 0009-0004-2951-2293
Rima KorbanDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
France LeturcqService de Medecine Genomique, Maladies de Systeme et d'Organe-Federation de Genetique et de Medecine Genomique, DMU BioPhyGen, APHP Centre-Universite Paris Cite-Hopital Cochin, Paris, France.
J Andoni UrtizbereaInstitut de Myologie, Paris, France.
Andre MegarbaneDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.ORCID 0000-0003-0714-2469

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDuchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder caused by pathogenic variants in the

methodsThis study includes five unrelated Lebanese families who presented for genetic counseling or pre-marital screening and subsequently underwent genetic testing.

resultsExome sequencing revealed a predicted protein-truncating variant in exon 71 of

conclusionThis study underscores the importance of functional validation and long-term clinical monitoring to refine variant classification and guide accurate genetic counseling.

Indexed as

DystrophinMuscular Dystrophy, DuchenneAdultCodon, NonsenseExome SequencingFemaleGenetic Association StudiesHumansLebanonMaleMiddle AgedPedigreePhenotypeCodon, NonsenseDMD protein, humanDystrophinDMDmodifier genesp.Trp3416* variantvariants classification

Identifiers

PMID40831153
PMCPMC13438998

What Socratic 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 Socratic graph.