Evidence map›Paper›PMID 39634247›Full record

ArticleMolecular syndromology2024

Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel

Yasmina Rahmuni, Youssef El Kadiri, Jaber Lyahyai, Nezha Birouk, Mounir Nesnassi, Abdelaziz Sefiani, Ilham Ratbi

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2024. 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

7 authors.

Yasmina RahmuniResearch team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V of Rabat, Rabat, Morocco.
Youssef El KadiriResearch team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V of Rabat, Rabat, Morocco.
Jaber LyahyaiResearch team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V of Rabat, Rabat, Morocco.
Nezha BiroukNeurophysiology Service, Hospital of Specialties, Ibn Sina University Hospital Center, Mohammed V University of Rabat, Rabat, Morocco.
Mounir NesnassiCardiology B Service, Ibn Sina University Hospital Center, Mohammed V University of Rabat, Rabat, Morocco.
Abdelaziz SefianiResearch team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V of Rabat, Rabat, Morocco.
Ilham RatbiResearch team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V of Rabat, Rabat, Morocco.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disorder characterized by muscle weakness and atrophy associated with early tendon retractions and late cardiomyopathy. Among several genes, Case Presentation: We report clinical and molecular data of two unrelated Moroccan patients with EDMD in whom we identified a deleterious hemizygous splicing variant NM_000117.3( Conclusion: We emphasize the importance of NGS as a powerful genetic tool in EDMD for accurate molecular diagnosis, effective clinical management of patients, and appropriate genetic counseling of families.

Indexed as

EMDEmery-Dreifuss muscular dystrophyLMNANGS

Identifiers

PMID39634247
PMCPMC11614433

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.