Evidence map›Paper›PMID 30838351›Full record

ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2018

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.

Uluç Yiş, Gülden Diniz, Filiz Hazan, Hülya Sevcan Daimagüler, Bahar Toklu Baysal, Figen Baydan, Gülçin Akinci, Aycan Ünalp, Gül Aktan, Erhan Bayram and 8 more

Open access · greenAbstract read
In one paragraph

Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
0.8field-weighted citation impact, top 27% 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

11 citing papers in PubMed, 19 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Utility of exome sequencing for the diagnosis of pediatric-onset neuromuscular diseases beyond diagnostic yield: a narrative review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024
    Review
  5. Article
  6. Article
  7. Article
  8. Review
  9. Clinical exome sequencing in neuromuscular diseases: an experience from Turkey.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020
    Article
  10. Article
  11. 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

18 authors at 4 institutions in 3 countries.

Uluç YişDokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey.
Gülden DinizNeuromuscular Disease Center, Tepecik Research Hospital, İzmir, Turkey.
Filiz HazanDr Behçet Uz Children's Research Hospital, Department of Medical Genetics, İzmir, Turkey.
Hülya Sevcan DaimagülerUniversity Hospital Cologne, Department of Pediatrics, Cologne, Germany.
Bahar Toklu BaysalDr Behçet Uz Children's Research Hospital, Department of Pediatric Neurology, İzmir, Turkey.
Figen BaydanNeuromuscular Disease Center, Tepecik Research Hospital, İzmir, Turkey.
Gülçin AkinciDr Behçet Uz Children's Research Hospital, Department of Pediatric Neurology, İzmir, Turkey.
Aycan ÜnalpDr Behçet Uz Children's Research Hospital, Department of Pediatric Neurology, İzmir, Turkey.
Gül AktanEge University, School of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey.
Erhan BayramDokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey.
Semra HizDokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey.
Cem PaketçiDokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey.
Derya OkurDokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey.
Erdener ÖzerDokuz Eylül University, School of Medicine, Department of Pathology, İzmir, Turkey.
Ayça Ersen DanyeliDokuz Eylül University, School of Medicine, Department of Pathology, İzmir, Turkey.
Muzaffer PolatCelal Bayar University, School of Medicine, Department of Pediatrics, Division of Child Neurology, Manisa, Turkey.
Gökhan UyanikCenter for Medical Genetics, Hanusch Hospital, Vienna, Austria.
Sebahattin ÇirakUniversity Hospital Cologne, Department of Pediatrics, Cologne, Germany.
Dokuz Eylül University · TRUniversity Hospital Cologne · DEEge University · TRHanusch Hospital · AT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where

Indexed as

AdolescentAge of OnsetBiopsyCalpainChildChild, PreschoolConnectinFemaleGenetic TestingHumansInfantLamin Type AMaleMannosyltransferasesMicrofilament ProteinsMuscle ProteinsCalpainCAPN3 protein, humanConnectinLamin Type ALMNA protein, humanMannosyltransferasesMicrofilament ProteinsMuscle ProteinsMYOT protein, humanprotein O-mannosyltransferaseSarcoglycansSGCB protein, humanTTN protein, humanchildhoodgenetic diagnosislimb-girdle muscular dystrophyTurkey

Identifiers

PMID30838351
PMCPMC6390111
OpenAlexW2913875186

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.