Evidence map›Paper›PMID 39687448›Full record

ArticleIranian journal of pathology2024

Peripheral Neuropathy in Mitochondrial Trifunctional Protein Deficiency due to a Variant in

Samaneh Abedidoust, Reza-Shervin Badv, Amitis Saliani, Aileen Azari-Yam

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Article in Iranian journal of pathology, 2024. 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

4 authors.

Samaneh AbedidoustDepartment of Molecular Pathology and Cytogenetics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Reza-Shervin BadvDepartment of Pediatric Neurology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Amitis SalianiWilliam Harvey Research Institute, Queen Mary University of London, London, England.
Aileen Azari-YamDepartment of Molecular Pathology and Cytogenetics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a 4.5-year-old girl with recurrent episodes of bilateral lower limb weakness following periods of upper respiratory tract infection since the age of 1.5 years. Nerve conduction velocity and electromyography studies suggested distal motor neuropathy. The whole exome sequencing analysis revealed a homozygous variant, c.955G>A (p.Gly319Ser), of the mitochondrial trifunctional protein α-subunit (HADHA) gene. This variant has already been reported as pathogenic in an Iranian consanguineous family with a probable diagnosis of Charcot-Marie-Tooth disease. In addition, this variant, in compound heterozygosity with another likely pathogenic variant, has been known to be linked with mitochondrial trifunctional protein deficiency.

Indexed as

Fatty acid ß-oxidationHADHA geneMitochondrial trifunctional proteinNeuropathyWhole exome sequencing

Identifiers

PMID39687448
PMCPMC11646195

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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.