Evidence map›Paper›PMID 40808490›Full record

ReviewJournal of neuromuscular diseases2026

Congenital-onset MLASA2 from a novel

Astrid Eisenkölbl, Hanns Lochmüller, Melissa T Carter, Leslie E Hamilton, Hugh J McMillan

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

Review in Journal of neuromuscular diseases, 2026. 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. Review
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

5 authors.

Astrid EisenkölblDepartment of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria.
Hanns LochmüllerChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
Melissa T CarterChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
Leslie E HamiltonDepartment of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Hugh J McMillanChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

IntroductionMLASA (myopathy, lactic acidosis and sideroblastic anemia) is a rare, autosomal recessive mitochondrial disorder. Symptom onset typically occurs in childhood and differs considerably in disease severity. Congenital-onset disease is uncommon.MethodsWhole genome sequencing was performed which identified two heterozygous, rare

Indexed as

Acidosis, LacticAnemia, SideroblasticMitochondrial MyopathiesFemaleHumansInfantMELAS SyndromeMuscle, SkeletalYARS2 – MLASA2 – mitochondrial myopathy – sideroblastic anemia

Identifiers

PMID40808490
PMCPMC13434952

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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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.