Evidence map›Paper›PMID 42404761›Full record

ArticleHuman mutation2026

Autosomal Dominant Missense

Edoardo Malfatti, Alexandru Caramizaru, Federica Trentin, Andreea Dumitrescu, Luca Sali, Alexandra Bastian, Hane Lee, Homa Tajsharghi, Camille Verebi, Juliette Nectoux and 6 more

Abstract read
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Autosomal Dominant MissenseHuman mutation · 2026
    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

16 authors.

Edoardo MalfattiReference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, Créteil, France.ORCID https://orcid.org/0000-0001-7871-8600
Alexandru CaramizaruRegional Center for Medical Genetics Dolj, Craiova, Romania.ORCID https://orcid.org/0009-0006-1422-0057
Federica TrentinDepartment of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy, unibo.it.
Andreea DumitrescuRegional Center for Medical Genetics Dolj, Craiova, Romania.
Luca SaliUniversity Paris Est Créteil, Inserm U955, IMRB, Créteil, France, inserm.fr.
Alexandra BastianDepartment of Pathology, Colentina Clinical Hospital, Bucharest, Romania, spitalul-colentina.ro.
Hane Lee3billion Inc., Seoul, South Korea.
Homa TajsharghiSchool of Health Sciences, Division of Biomedicine, University of Skovde, Skovde, Sweden.ORCID https://orcid.org/0000-0001-8854-5213
Camille VerebiService de Médecine Génomique des Maladies de Système et d'Organe, Fédération de Génétique et de Médecine Génomique, APHP.Centre-Université Paris Cité, Hôpital Cochin, Paris, France, aphp.fr.ORCID https://orcid.org/0000-0002-0524-4827
Juliette NectouxService de Médecine Génomique des Maladies de Système et d'Organe, Fédération de Génétique et de Médecine Génomique, APHP.Centre-Université Paris Cité, Hôpital Cochin, Paris, France, aphp.fr.ORCID https://orcid.org/0000-0001-5584-1112
France LeturcqService de Médecine Génomique des Maladies de Système et d'Organe, Fédération de Génétique et de Médecine Génomique, APHP.Centre-Université Paris Cité, Hôpital Cochin, Paris, France, aphp.fr.
Rahul PhadkeDubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, England, UK, nhs.uk.
Anna SarkozyDubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, England, UK, nhs.uk.
Adnan ManzurDubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, England, UK, nhs.uk.
Redouane FodilUniversity Paris Est Créteil, Inserm U955, IMRB, Créteil, France, inserm.fr.
Amelia DobrescuRegional Center for Medical Genetics Dolj, Craiova, Romania.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Limb-girdle muscular dystrophies (LGMDs) are disorders with an important clinical heterogeneity, usually involving proximal limb muscles. One subtype, LGMD R16 (LGMD 2P), is an autosomal recessive condition caused by pathogenic variants in

Indexed as

DystroglycansGenes, DominantMuscular Dystrophies, Limb-GirdleMutation, MissenseAdultFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGlycosylationHeterozygoteHumansMaleMuscle, SkeletalPedigreePhenotypeDAG1 protein, humanDystroglycansalpha-dystroglycanDAG1glycosylationheterozygousLGMD R16mild–moderate phenotypemissense

Identifiers

PMID42404761
PMCPMC13332352

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.