Evidence map›Paper›PMID 39477909›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2025

A TPM2 mutation causes congenital myopathy with fibre-type disproportion.

Paulo José Lorenzoni, Luciane Filla, Renata Dal-Prá Ducci, Otto Jesus Hernandez Fustes, Paula Raquel do Vale Pascoal Rodrigues, Raquel Cristina Arndt, Cláudia Suemi Kamoi Kay, Lineu Cesar Werneck, Rosana Herminia Scola

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In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025. 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

9 authors.

Paulo José LorenzoniService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil. lorenzoni@ufpr.br.ORCID http://orcid.org/0000-0002-4457-7771
Luciane FillaService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0009-0008-8722-212X
Renata Dal-Prá DucciService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0000-0002-1673-5074
Otto Jesus Hernandez FustesService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0000-0003-0778-5376
Paula Raquel do Vale Pascoal RodriguesService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0000-0002-8024-0009
Raquel Cristina ArndtService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0000-0002-3745-7595
Cláudia Suemi Kamoi KayService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0000-0003-0173-0809
Lineu Cesar WerneckService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0000-0003-1921-1038
Rosana Herminia ScolaService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0000-0002-3957-5317

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a 9-year-old girl with delayed motor milestones and respiratory difficulty since birth. She presented as a floppy infant, with generalised muscle wasting, dysphagia and facial weakness. The muscle biopsy of the biceps brachii revealed congenital fibre-type disproportion (CFTD) and Sanger sequencing detected a pathogenic variant in the beta-tropomyosin (TPM2) gene (c.415_417delGAG; p.Glu139del). There has been only one previous report of CFTD associated with p.Glu139del in the TPM2 gene.

Indexed as

MutationMyopathies, Structural, CongenitalTropomyosinChildFemaleHumansTPM2 protein, humanTropomyosinCongenital myopathyMuscle fibre disproportionTPM2Tropomyosin

Identifiers

PMID39477909

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.