Evidence map›Paper›PMID 35607917›Full record

ArticleHuman mutation2022

Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.

Josefine D S Borch, Thomas Krag, Sonja D Holm-Yildiz, Hakan Cetin, Tuva A Solheim, Freja Fornander, Volker Straub, Morten Duno, John Vissing

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 36% of its field
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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. 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 at 3 institutions in 3 countries.

Josefine D S BorchDepartment of Neurology, Rigshospitalet, Copenhagen Neuromuscular Center, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0003-4171-7668
Thomas KragDepartment of Neurology, Rigshospitalet, Copenhagen Neuromuscular Center, University of Copenhagen, Copenhagen, Denmark.
Sonja D Holm-YildizDepartment of Neurology, Rigshospitalet, Copenhagen Neuromuscular Center, University of Copenhagen, Copenhagen, Denmark.
Hakan CetinDepartment of Neurology, Medical University of Vienna, Vienna, Austria.
Tuva A SolheimDepartment of Neurology, Rigshospitalet, Copenhagen Neuromuscular Center, University of Copenhagen, Copenhagen, Denmark.
Freja FornanderDepartment of Neurology, Rigshospitalet, Copenhagen Neuromuscular Center, University of Copenhagen, Copenhagen, Denmark.
Volker StraubJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.
Morten DunoDepartment of Clinical Genetics, Section 4062, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
John VissingDepartment of Neurology, Rigshospitalet, Copenhagen Neuromuscular Center, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0001-6144-8544
University of Copenhagen · DKMedical University of Vienna · ATNewcastle upon Tyne Hospitals NHS Foundation Trust · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary muscle disease, characterized by the clinical triade of early-onset joint contractures, progressive muscle weakness, and cardiac involvement. Pathogenic variants in FHL1 can cause a rare X-linked recessive form of EDMD, type 6. We report three men with novel variants in FHL1 leading to EDMD6. The onset of muscle symptoms was in late adulthood and muscle weakness was not prominent in either of the patients. All patients had hypertrophic cardiomyopathy and one of them also had cardiac arrhythmias. Western blot performed on muscle biopsies from two of the patients showed no FHL1 protein expression. We predict that the variant in the third patient also leads to the absence of FHL1 protein. Complete loss of all FHL1 isoforms combined with mild muscle involvement supports the hypothesis that loss of all FHL1 isoforms is more benign than the cytotoxic effects of expressed FHL1 protein with pathogenic missense variants.

Indexed as

Intracellular Signaling Peptides and ProteinsLIM Domain ProteinsMuscle ProteinsMuscular Dystrophy, Emery-DreifussHumansMalePhenotypeProtein IsoformsFHL1 protein, humanIntracellular Signaling Peptides and ProteinsLIM Domain ProteinsMuscle ProteinsProtein IsoformscardiomyopathyEDMD6Emery-Dreifuss muscular dystrophyFHL1muscular dystrophy

Identifiers

PMID35607917
PMCPMC9545859
OpenAlexW4281558654

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.