Evidence map›Paper›PMID 42707250›Full record

ArticleMolecular genetics and metabolism reports2026

The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect.

Reme Unuakhalu, Alexandra Purcell, Ishaan Jindal, Yaning Wu, Michael Arnold, Kelli C Dominick, Amelle Shillington

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

Article in Molecular genetics and metabolism reports, 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

7 authors.

Reme UnuakhaluUniversity of Cincinnati College of Medicine, USA.
Alexandra PurcellUniversity of Cincinnati College of Medicine, USA.
Ishaan JindalUniversity of Cincinnati College of Medicine, USA.
Yaning WuDepartment of Human Genetics, Cincinnati Children's Hospital Medical Center, USA.
Michael ArnoldDepartment of Psychiatry and Behavioral Neuroscience, University of Cincinnati College of Medicine, USA.
Kelli C DominickDepartment of Psychiatry and Behavioral Neuroscience, University of Cincinnati College of Medicine, USA.
Amelle ShillingtonDepartment of Human Genetics, Cincinnati Children's Hospital Medical Center, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple mitochondrial dysfunctions syndrome 6 (MMDS6), caused by biallelic likely pathogenic variants in

Indexed as

Dual molecular diagnosisGenome sequencingMitochondrial diseaseMitochondrial processing peptidaseMultiple mitochondrial dysfunctions syndrome 6NeurodegenerationPMPCBVCP

Identifiers

PMID42707250
PMCPMC13546929

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.