Evidence map›Paper›PMID 33193787›Full record

ArticleIranian journal of child neurology2020

A case report of congenital myasthenic syndrome caused by a mutation in theCHRNE genein the Iranian population.

Zahra Farjami, Negar Khodaenia, Neshat Ebrahimi, Gholamreza Zamani, Amir Hosein Ashnaei, Mohammad Galehdari, Mehdi Moradyar, Massoud Houshmand

Open access · greenAbstract readCase Reports
PubMed Full text at PMC
In one paragraph

Article in Iranian journal of child neurology, 2020. 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, top 84% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  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

8 authors at 3 institutions in 1 country.

Zahra FarjamiNational Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
Negar KhodaeniaNational Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
Neshat EbrahimiLaboratory of Cedars-Sinai Medical Center, Los Angeles, California, USA.
Gholamreza ZamaniPediatric Neurologist, Tehran University of Medical Sciences, Tehran, Iran.
Amir Hosein AshnaeiDepartment of Modern Sciences and technologies; Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Mohammad GalehdariDepartment of Biology, Faculty of Sciences, North Tehran Branch, Islamic Azad University, Tehran, Iran.
Mehdi MoradyarNational Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
Massoud HoushmandNational Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
National Institute of Genetic Engineering and Biotechnology · IRIslamic Azad University North Tehran Branch · IRMashhad University of Medical Sciences · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital myasthenic syndrome (CMS) refers to a heterogeneous group of inherited disorders, characterized by defective transmissionat the neuromuscular junction (NMJ). Patients with CMS showed similar muscle weakness, while other clinical manifestations are mostly dependent on genetic factors. This disease,caused bydifferent DNA mutations, is genetically inherited. It is also associated with mutations of genes at NMJ, involving the acetylcholine receptor (AChR) subunits. Here, we present the case ofa five-year-old Iranian boywith CMS, undergoingtargeted sequencing of a panel of genes, associated with arthrogryposis and CMS. The patient had six affected relatives in his genetic pedigreechart. The investigations indicated a homozygous single base pair deletion at exon 12 of the

Indexed as

CHRNECMSCongenital myasthenic syndrome

Identifiers

PMID33193787
PMCPMC7660024
OpenAlexW3094503069

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.