Evidence map›Paper›PMID 34433720›Full record

ArticleInternal medicine (Tokyo, Japan)2022

Novel LG1 Mutations in Agrin Causing Congenital Myasthenia Syndrome.

Ping Xia, Fei Xie, Zhi-Jie Zhou, Wen Lv

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

Article in Internal medicine (Tokyo, Japan), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.2field-weighted citation impact, top 43% 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, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. 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

4 authors at 2 institutions in 1 country.

Ping XiaDepartment of Neurology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, China.
Fei XieDepartment of Neurology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, China.
Zhi-Jie ZhouDepartment of Orthopaedic Surgery, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, China.
Wen LvDepartment of Neurology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, China.
Sir Run Run Shaw Hospital · CNZhejiang University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The patient had suffered from both proximal and distal limb weakness since her early childhood, without the involvement of ocular or respiratory muscles. Repetitive nerve stimulation (RNS) at 3 Hz showed significant decrement in the area and amplitude of the compound muscle action potential (CMAP) on the right abductor digiti minimi (26%) and trapezius (17%). Whole-exon sequencing revealed two novel heterozygous mutations (p.Q1406Rfs*29 and p.R1521H) in the LG1 domain of agrin, which were deemed likely pathogenic for congenital myasthenic syndromes (CMS) according to a bioinformatics analysis. The patient showed remarkable improvement after treatment with salbutamol. This case expanded the mutation spectrum of AGRN.

Indexed as

AgrinMyasthenic Syndromes, CongenitalChild, PreschoolExonsFemaleHumansMuscle WeaknessMutationAgrinAGRNcompound heterozygous mutationcongenital myasthenic syndromes

Identifiers

PMID34433720
PMCPMC8987244
OpenAlexW3195104780

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.