Evidence map›Paper›PMID 41904993›Full record

ArticleJournal of neuromuscular diseases2026

Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy.

Stephany El-Hayek, Aboulfazl Rad, Sahar Sedighzadeh, Gozde Yesil, Sandra Sabbagh, Mohammad Shahrooei, Pratibha Nair, Asuman Gedikbaşı, Sami Bizzari, Murtadha Ali and 18 more

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

28 authors.

Stephany El-HayekCentre for Arab Genomic Studies, Hamdan bin Rashid Foundation for Medical and Educational Sciences, Dubai, UAE.ORCID 0000-0002-2456-0905
Aboulfazl RadArcensus GmbH, Rostock 18119, Germany.
Sahar SedighzadehDepartment of Biological Sciences, Faculty of Sciences, Shahid Chamran University of Ahvaz, Khuzestan, Iran.ORCID 0000-0002-6973-4809
Gozde YesilDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Sandra SabbaghDivision of Neuro-Pediatrics, Hotel-Dieu de France Hospital, Beirut, Lebanon.
Mohammad ShahrooeiDr. Shahrooei Lab, Tehran, Iran.
Pratibha NairCentre for Arab Genomic Studies, Hamdan bin Rashid Foundation for Medical and Educational Sciences, Dubai, UAE.
Asuman GedikbaşıInstitute of Child Health, Department of Pediatric Basic Sciences, Division of Medical Genetics & Nutrition and Metabolism Laboratory, Istanbul Medical Faculty, Istanbul, Turkey.
Sami BizzariCentre for Arab Genomic Studies, Hamdan bin Rashid Foundation for Medical and Educational Sciences, Dubai, UAE.
Murtadha AliArcensus GmbH, Rostock 18119, Germany.ORCID 0000-0002-7105-8096
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.
Ayca AslangerDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Pejman RohaniPediatric Gastroenterology and Hepatology Research Center, Pediatric Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
Meisam SharifzadehDepartment of Pediatric Intensive Care, Children Medical Center Tehran University of Medical Sciences, Tehran, Iran.
Sinan AkbasDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.ORCID 0009-0006-1510-8817
Javad Mohammadi-AslNoor-Gene Genetic Laboratory, Ahvaz, Iran.
Mahdiyeh BehnamDr. Shahrooei Lab, Tehran, Iran.
Sandra CorbaniDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.ORCID 0009-0004-2951-2293
Volkan KaramanDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Uluç YişFaculty of Medicine, Pediatric Neurology Department, Dokuz Eylül University, Izmir, Turkey.
Yavuz OktayIzmir Biomedicine and Genome Center (IBG), Izmir, Turkey.ORCID 0000-0002-0158-2693
Ipek PolatFaculty of Medicine, Pediatric Neurology Department, Dokuz Eylül University, Izmir, Turkey.
J Andoni UrtizbereaInstitut de Myologie, Paris, France.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Reza MaroofianDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-6763-1542
Gabriela OpreaArcensus GmbH, Rostock 18119, Germany.ORCID 0000-0001-5467-5247
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

Autosomal recessive Limb-Girdle Muscular Dystrophy type R28 (LGMDR28; OMIM #620375) is one of the most recently identified subtypes of recessive LGMD. To date, 17 affected individuals from eight unrelated families have been reported to harbor biallelic variants in the

Indexed as

amyotrophygenome/exome sequencingHMGCRmuscular dystrophyneuro-muscularrespiratory failure

Identifiers

PMID41904993
PMCPMC13438658

What Socratic holds

Textmetadata
LicenceCC BY-NC
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.