Evidence map›Paper›PMID 40583167›Full record

ArticleClinical genetics2026

Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease.

Mahmoud R Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J Collier, Charlotte V Y Knowles, Eleni Mavraki, Miriam Elbracht, Nergis Güzel, Thomas Herberhold, Ingo Kurth and 11 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. 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

21 authors.

Mahmoud R FassadMitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Sebastian ValenzuelaDepartment of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.
Monika OláhováMitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Jack J CollierMitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Charlotte V Y KnowlesNHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Eleni MavrakiNHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Miriam ElbrachtCenter for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.ORCID 0000-0001-5088-1369
Nergis GüzelCenter for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Thomas HerberholdCentre of Epilepsy for Children and Adolescents, Hospital for Neuropediatrics and Neurological Rehabilitation, Schoen Klinik Vogtareuth, Vogtareuth, Germany.
Ingo KurthCenter for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.ORCID 0000-0002-5642-8378
Andrea MaierMedical Treatment Center for Adults With Intellectual Disabilities and/or Severe Multiple Disabilities (MZEB), RWTH Aachen University Hospital, Aachen, Germany.
Larissa MatternCenter for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Carol SaundersDepartment of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.ORCID 0000-0002-7407-7735
Helen McCullaghDepartment of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
Katrin ÕunapDepartment of Clinical Genetics, Genetic and Personalized Medicine Clinic, Institute of Clinical Medicine, Tartu University Hospital, University of Tartu, Tartu, Estonia.ORCID 0000-0002-4594-6364
Saskia B WortmannUniversity Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
Andre ReisInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Lei ZhangDepartment of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.
Claes M GustafssonDepartment of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.
Robert McFarlandMitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Robert W TaylorMitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.ORCID 0000-0002-7768-8873

Funding

Estonian Research Council PRG2040Estonian Research Council PRG471Fight for SightLifeArcLily FoundationMedical Research Council MR/W019027/1Medical Research Council International Centre for Genomic Medicine in Neuromuscular Disease MR/S005021/1Pathological Society of Great Britain and IrelandSwedish research council 2022-00976Swedish state ALFGBG-966275the European Reference Network for Rare Hereditary Metabolic Disorders 739543the Knut and Alice Wallenberg Foundationthe Mitochondrial Disease Patient Cohort G0800674UK NIHR Biomedical Research Centre for Ageing and Age-related diseaseWellcome Centre for Mitochondrial Research 203105/Z/16/ZWellcome Trust
6 · The paper itself

Abstract

Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity. Genomic testing is increasingly used as the first step in the diagnostic pathway for mitochondrial diseases. We used next-generation sequencing followed by bioinformatic data analysis to identify potentially damaging variants in the POLRMT gene (NM_005035.4) in six new affected individuals. Structural protein analysis predicted the detrimental impact of variants on POLRMT protein structure. Patients show extended phenotypic abnormalities often presenting early in life with features including global developmental delay, cognitive impairment, short stature and muscular hypotonia. This study expands the genetic and phenotypic landscape of mitochondrial disease associated with POLRMT variants.

Indexed as

Genetic Predisposition to DiseaseMitochondrial DiseasesAdolescentChildChild, PreschoolFemaleGenetic Association StudiesHigh-Throughput Nucleotide SequencingHumansInfantMaleMutationPhenotypemitochondrial diseaseneurodevelopmental disordersPOLRMTvariant classification

Identifiers

PMID40583167
PMCPMC12674971

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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.