Evidence map›Paper›PMID 40529812›Full record

ArticleFrontiers in genetics2025

Autosomal dominant myopathy caused by a novel

Joanna M Rusecka, Camilla Ceccatelli Berti, Dominika Szczęśniak, Małgorzata Bednarska-Makaruk, Magdalena Mroczek, Magdalena M Kacprzak, Agnieszka Sobczyńska-Tomaszewska, Paola Goffrini

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In one paragraph

Article in Frontiers in genetics, 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

8 authors.

Joanna M Rusecka *MedGen Medical Center, Warsaw, Poland.
Camilla Ceccatelli Berti *Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
Dominika SzczęśniakMedGen Medical Center, Warsaw, Poland.
Małgorzata Bednarska-MakarukDepartment of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
Magdalena MroczekDepartment of Biomedicine, University Hospital Basel and University of Basel, Basel, Switzerland.
Magdalena M KacprzakMedGen Medical Center, Warsaw, Poland.
Agnieszka Sobczyńska-TomaszewskaMedGen Medical Center, Warsaw, Poland.
Paola GoffriniDepartment of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary myopathy with lactic acidosis due to Iron-Sulfur Cluster Assembly Enzyme (ISCU) deficiency is a rare disorder of energy metabolism characterized clinically by myopathy with exercise intolerance, and biochemically by deficiencies of skeletal muscle mitochondrial respiratory chain enzymes. ISCU protein plays an important role in iron-sulphur clusters (Fe-S) assembly and is therefore essential for the activity of mitochondrial Fe-S proteins such as succinate dehydrogenase and aconitase. Recessive hypomorphic

Indexed as

ISCUmitochondriamitochondrial myopathyWESyeast model

Identifiers

PMID40529812
PMCPMC12171185

What OpenQuestion holds

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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.