Evidence map›Paper›PMID 30057997›Full record

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

Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene.

Gilbert Wunderlich, Anna Brunn, Hülya-Sevcan Daimagüler, Tarik Bozoglu, Gereon R Fink, Helmar C Lehmann, Joachim Weis, Sebahattin Cirak

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PubMed Full text at PMC
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 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 33% 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

3 citing papers in PubMed, 11 citations in OpenAlex.

  1. Differential inclusion ofmedRxiv : the preprint server for health sciences · 2024
    Article
  2. Muscle magnetic resonance imaging involvement patterns in nemaline myopathies.Annals of clinical and translational neurology · 2023
    Article
  3. Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2018
    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 2 institutions in 1 country.

Gilbert WunderlichDepartment of Neurology, University Hospital Cologne, 50937 Cologne, Germany.
Anna BrunnInstitute for Neuropathology, University of Cologne, 50937 Cologne, Germany.
Hülya-Sevcan DaimagülerDepartment of Pediatrics, University Hospital Cologne, 50937 Cologne, Germany.
Tarik BozogluDepartment of Pediatrics, University Hospital Cologne, 50937 Cologne, Germany.
Gereon R FinkDepartment of Neurology, University Hospital Cologne, 50937 Cologne, Germany.
Helmar C LehmannDepartment of Neurology, University Hospital Cologne, 50937 Cologne, Germany.
Joachim WeisInstitute for Neuropathology, RWTH University Hospital Aachen, 52074 Aachen, Germany.
Sebahattin CirakDepartment of Pediatrics, University Hospital Cologne, 50937 Cologne, Germany.
University Hospital Cologne · DEUniversity of Cologne · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in the Nebulin gene (NEB) may cause core-rod myopathy. The large size of the gene so far prevented inclusion of its routine analysis by didesoxy resequencing methodology in the diagnostic regime for muscular dystrophy cases. Here we report a 54-year-old female with a rare histological myopathy presentation of co-occurring cores and rods. The patient reported early childhood onset weakness. Muscle-MRI showed mainly proximal muscle involvement. We identified two compound heterozygous non-sense mutations in NEB (c.19653G > A, p.W6551

Indexed as

Codon, NonsenseFemaleHigh-Throughput Nucleotide SequencingHumansMagnetic Resonance ImagingMiddle AgedMuscle ProteinsMuscle, SkeletalMyopathies, NemalinePedigreeCodon, NonsenseMuscle Proteinsnebulincore-rod myopathycosmetic surgeryMendeliomemuscle magnetic resonance imagingNebulin

Identifiers

PMID30057997
PMCPMC6060425
OpenAlexW2890664675

What OpenQuestion holds

Textmetadata
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.