Evidence map›Paper›PMID 42667135›Full record

ArticleJournal of neuromuscular diseases2026

Between myopathy and mortality: Challenges in the diagnosis of

Katharina Vill, Theresa Brunet, Melanie Brugger, Matias Wagner, Matthias Baumann, Ulrich Schatz, Astrid Pechmann, Iris Hannibal, Moritz Tacke, Cecilia Giunta and 6 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

16 authors.

Katharina VillDepartment of Pediatrics I, Division of Pediatric Neurology I MUC iSPZ Hauner - Munich University Center for Children with Medical and Developmental Complexity, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany.ORCID 0000-0003-1925-7538
Theresa BrunetSchool of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Melanie BruggerSchool of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Matias WagnerDepartment of Pediatrics I, Division of Pediatric Neurology I MUC iSPZ Hauner - Munich University Center for Children with Medical and Developmental Complexity, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany.
Matthias BaumannDepartment of Pediatrics I, Division of Pediatric Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Ulrich SchatzSchool of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Astrid PechmannDepartment of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
Iris HannibalDepartment of Pediatrics I, Division of Pediatric Neurology I MUC iSPZ Hauner - Munich University Center for Children with Medical and Developmental Complexity, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany.
Moritz TackeDepartment of Pediatrics I, Division of Pediatric Neurology I MUC iSPZ Hauner - Munich University Center for Children with Medical and Developmental Complexity, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany.
Cecilia GiuntaConnective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.
Walter WohlgemuthClinic and Policlinic of Radiology, Martin-Luther University Halle-Wittenberg, Halle (Saale), Germany.
Moritz WildgruberDepartment for Radiology, LMU University Hospital, Munich, Germany.
Wolfgang Müller-FelberDepartment of Pediatrics I, Division of Pediatric Neurology I MUC iSPZ Hauner - Munich University Center for Children with Medical and Developmental Complexity, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany.
Astrid BlaschekDepartment of Pediatrics I, Division of Pediatric Neurology I MUC iSPZ Hauner - Munich University Center for Children with Medical and Developmental Complexity, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany.
Marianne RohrbachConnective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.
Veronika HufDepartment of Pediatric Radiology, Catholic Children's Hospital Hamburg Wilhelmstift, Hamburg, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

ObjectivePLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by generalized joint laxity, severe congenital hypotonia, progressive kyphoscoliosis, hyperextensible and easily bruised skin, ocular abnormalities, and significant vascular complications.MethodsWe report on nine patients from seven families, eight of them carrying the common homozygous duplication of exons 10-16 in

Indexed as

congenital myopathyEhlers-Danloskyphoscoliotic Ehlers-Danlos syndromePLOD1PLOD1-related kEDS

Identifiers

PMID42667135
PMCPMC13526180

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.