Evidence map›Paper›PMID 31110749›Full record

ArticleClinical case reports2019

Emery-Dreifuss muscular dystrophy type 4: A new

Mastroianno Sandra, Leone Maria Pia, Castellana Stefano, Palumbo Pietro, Paola Crociani, Russo Aldo, Di Stolfo Giuseppe, Carella Massimo

Open access · goldAbstract readCase Reports
In one paragraph

Article in Clinical case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.9field-weighted citation impact, top 28% of its field
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

9 citing papers in PubMed, 16 citations in OpenAlex.

  1. Novel homozygousTherapeutic advances in neurological disorders · 2026
    Article
  2. Article
  3. Understanding the molecular basis of cardiomyopathy.American journal of physiology. Heart and circulatory physiology · 2022
    Review
  4. BiallelicGenes · 2021
    Article
  5. Young and early-onset dilated cardiomyopathy with malignant ventricular arrhythmia and sudden cardiac death induced by the heterozygous LDB3, MYH6, and SYNE1 missense mutations.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2021
    Article
  6. Review
  7. Article
  8. Review
  9. 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

8 authors at 1 institution in 1 country.

Mastroianno SandraCardiovascular Department Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy.
Leone Maria PiaClinical Genetic Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy.
Castellana StefanoBioinformatics Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy.
Palumbo PietroClinical Genetic Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy.
Paola CrocianiNeurology Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy.
Russo AldoCardiovascular Department Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy.
Di Stolfo GiuseppeCardiovascular Department Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy.ORCID https://orcid.org/0000-0003-1758-7138
Carella MassimoClinical Genetic Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy.
Casa Sollievo della Sofferenza · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypertrophic cardiomyopathy could be part of a more complex syndrome like Emery-Dreifuss muscular dystrophy type 4. Genetic analysis allowed to identify a de novo heterozygous missense mutation in SYNE1 gene (chr6:152665253:G > C), supporting physician to reach a correct diagnosis in patient affected by cardiomyopathy associated with a difficult clinical scenario.

Indexed as

Emery‐Dreifuss muscular dystrophy type 4hypertrophic cardiomyopathySYNE1 mutation

Identifiers

PMID31110749
PMCPMC6509902
OpenAlexW2942331005

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.