Evidence map›Paper›PMID 41199734›Full record

ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2025

Comorbid autosomal dominant LDLR- and collagen VI-related disorders.

Bukola A Olarewaju, David Melville, Judy B Tejon, Khaled I Dweik, George Bcharah, Robert S Platou, Radhika Dhamija, Fadi Shamoun, Mayowa A Osundiji

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2025. 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. 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

9 authors.

Bukola A OlarewajuSchool of Science and Engineering, University of Dundee, United Kingdom.
David MelvilleDepartment of Radiology, Mayo Clinic, Phoenix, AZ, USA.
Judy B TejonDepartment of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA.
Khaled I DweikDepartment of Neurology, Mayo Clinic, AZ, USA.
George BcharahMayo Clinic Alix School of Medicine, Mayo Clinic, Phoenix, Arizona, USA.
Robert S PlatouDepartment of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA.
Radhika DhamijaDepartment of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA.
Fadi ShamounDepartment of Cardiovascular Medicine, Mayo Clinic, Scottsdale, AZ, USA.
Mayowa A OsundijiDepartment of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Collagen 6-related Bethlem myopathy and LDLR-related familial hypercholesterolemia are presumed to be quite rare in the general population. Case report: Here, we present the clinical findings from a 65-year-old man with comorbid Bethlem myopathy and familial hypercholesterolemia to highlight some important molecular diagnostic considerations and clinical management implications.

Indexed as

Collagen Type VIHyperlipoproteinemia Type IIMuscular DiseasesReceptors, LDLAgedHumansMaleCollagen Type VIReceptors, LDLcollagenhyperlipidemiaphenotype

Identifiers

PMID41199734
PMCPMC12599580

What OpenQuestion holds

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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.