Evidence map›Paper›PMID 40017288›Full record

ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2024

Congenital tubular aggregates myopathy associated with central nervous system involvement: description of a case.

Guillaume Baille, Gianmarco Severa, Camille Verebi, Robert-Yves Carlier, Edoardo Malfatti

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

Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2024. 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. Article
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

5 authors.

Guillaume Baille *Neurology department, Fondation Rothschild, Paris.
Gianmarco Severa *Université Paris Est, IMRB, INSERM, APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Filnemus, Henri Mondor Hospital, France.
Camille VerebiService de Médecine Génomique des Maladies de Système et d'Organe, Fédération de Génétique et de Médecine Génomique, APHP, Centre - Université Paris Cité, Hôpital Cochin, Paris, France.
Robert-Yves CarlierAPHP, Université UVSQ-Paris Saclay, Hôpital Raymond Poincaré, Service de Radiologie, Garches, France.
Edoardo MalfattiUniversité Paris Est, IMRB, INSERM, APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Filnemus, Henri Mondor Hospital, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tubular aggregate myopathy is a rare neuromuscular condition associated with the presence of myofibers protein accumulations, in the form of dense tubular aggregates. Clinically it is characterized by proximal muscular weakness, exercise-induced cramps, myalgias, and ocular features such as ophthalmoplegia and pupillary abnormalities. The involvement of the central nervous system is rare and not completely elucidated. Variants in

Indexed as

COVID-19Myopathies, Structural, CongenitalAdultHumansMaleMuscle, Skeletalepilepsymyoclonusmyopathysensorineural deafnesstubular aggregates

Identifiers

PMID40017288
PMCPMC11978424

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

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.