Evidence map›Paper›PMID 41677014›Full record

SynthesisBiomolecules & biomedicine2026

Fatimazahra Smaili, Khawla Zerrouki, Fatima Ezzahra Aouni, Mariam Tajir

Abstract readSystematic ReviewMeta-Analysis
In one paragraph

Synthesis in Biomolecules & biomedicine, 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

4 authors.

Fatimazahra SmailiLaboratory of Epidemiology, Clinical Research and Public Health, Faculty of Medicine and Pharmacy, Mohammed First University, Oujda, Morocco; Laboratory of Medical Genetics, Central Laboratory, Mohammed VI University Hospital, Oujda, Morocco.
Khawla ZerroukiLaboratory of Epidemiology, Clinical Research and Public Health, Faculty of Medicine and Pharmacy, Mohammed First University, Oujda, Morocco; Laboratory of Medical Genetics, Central Laboratory, Mohammed VI University Hospital, Oujda, Morocco.
Fatima Ezzahra AouniLaboratory of Epidemiology, Clinical Research and Public Health, Faculty of Medicine and Pharmacy, Mohammed First University, Oujda, Morocco; Laboratory of Medical Genetics, Central Laboratory, Mohammed VI University Hospital, Oujda, Morocco.
Mariam TajirLaboratory of Epidemiology, Clinical Research and Public Health, Faculty of Medicine and Pharmacy, Mohammed First University, Oujda, Morocco; Laboratory of Medical Genetics, Central Laboratory, Mohammed VI University Hospital, Oujda, Morocco.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dysferlinopathies are a subset of autosomal recessive muscular dystrophies resulting from pathogenic variants in the dysferlin (DYSF) gene. The prevalence of dysferlinopathies remains inadequately defined. This review aims to elucidate the mutational spectrum of DYSF in Arab populations. A systematic search was conducted in PubMed, ScienceDirect, Scopus, and Web of Science up to September 15, 2025. We identified 48 unique DYSF variants documented in the literature across eight Arab countries, resulting in 49 country-entries due to one variant being reported in two countries. The distribution of reported variants was as follows: Saudi Arabia 32.7% (16/49), Algeria 20.4% (10/49), Egypt 20.4% (10/49), Tunisia 10.2% (5/49), Morocco 6.1% (3/49), Libya 4.1% (2/49), Lebanon 4.1% (2/49), and Oman 2.0% (1/49). Clinical presentations were categorized based on phenotype assignments across variants, totaling 52 assignments as some variants were associated with multiple phenotypes: limb-girdle muscular dystrophy, recessive type 2 (LGMDR2) 50% (26/52), proximodistal 15% (8/52), Miyoshi myopathy 8% (4/52), distal myopathy with anterior tibial onset (DMAT) 4% (2/52), and asymptomatic hyperCKemia 4% (2/52). In terms of molecular consequences (denominator = 48 unique variants), frameshift variants constituted 36% (17/48), missense variants 29% (14/48), nonsense variants 15% (7/48), splice donor variants 6% (3/48), splice acceptor variants 4% (2/48), intronic variants 2% (1/48), and synonymous variants 2% (1/48). Documenting these variants across populations facilitates diagnosis and informs future public health strategies. Notably, no cohort study based in Morocco has focused on the genetics of dysferlinopathy; existing Moroccan data are limited to isolated case reports.

Indexed as

ArabsDysferlinGenetic VariationHumansMiddle EastMiddle Eastern PeopleMutationDysferlinDYSF protein, human

Identifiers

PMID41677014
PMCPMC13170716

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Registered trials

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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.