Evidence map›Paper›PMID 40687628›Full record

ArticleMolecular genetics and metabolism reports2025

TANGO2 deficiency disorder in a 61-year-old male with episodic weakness, rhabdomyolysis, myotonia, and a novel missense variant.

Henry Skocy, Amber McFerren, Daniel Cairns, H Mark Kenney, Eran Tallis, Amit S Dhamoon, Ellie Garbade, Samuel J Mackenzie

Abstract read
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In one paragraph

Article in Molecular genetics and metabolism reports, 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. 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

8 authors.

Henry SkocySchool of Medicine, University of Rochester Medical Center, Rochester, NY, USA.
Amber McFerrenSchool of Medicine, University of Rochester Medical Center, Rochester, NY, USA.
Daniel CairnsSchool of Medicine, University of Rochester Medical Center, Rochester, NY, USA.
H Mark KenneyDepartment of Medicine, University of Rochester Medical Center, Rochester, NY, USA.
Eran TallisDepartment of Pediatrics, Division of Pediatric Genetics, University of Rochester Medical Center, Rochester, NY, USA.
Amit S DhamoonDepartment of Medicine, University of Rochester Medical Center, Rochester, NY, USA.
Ellie GarbadeDepartment of Medicine, University of Rochester Medical Center, Rochester, NY, USA.
Samuel J MackenzieDepartment of Neurology, University of Rochester Medical Center, Rochester, NY, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

TANGO2 Deficiency Disorder (TDD) is an autosomal recessive condition, most commonly diagnosed in childhood. Clinical features may include episodic movement disorders, seizures, cognitive impairment, hypothyroidism, and metabolic crises marked by rhabdomyolysis and life-threatening cardiac symptoms. A small number of adults, thought to largely represent the milder end of the phenotypic spectrum, have received a diagnosis of TDD in their 30's or 40's, though no genotype-phenotype correlations have been established to date. In this case report, we present a 61-year-old man with mild intellectual disability and recurrent muscle weakness who was diagnosed with TDD during an inpatient hospitalization for diverticulitis, prostatitis, and muscle weakness, ultimately attributed to rhabdomyolysis. Genetic testing revealed a deletion of exons 3-9 in

Indexed as

Genotype-phenotype correlationMitochondrial diseaseMuscleNeurometabolicRhabdomyolysisTANGO2

Identifiers

PMID40687628
PMCPMC12273206

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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.