Evidence map›Paper›PMID 30223778›Full record

ArticleBMC medical genetics2018

Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy.

Shouyan Zheng, Wei Liao

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

Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.1field-weighted citation impact, top 47% 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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Case Report: a novelFrontiers in genetics · 2026
    Article
  2. 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

2 authors at 1 institution in 1 country.

Shouyan ZhengDepartment of Pediatrics, First Affiliated Hospital to Army Medical University, No. 30, Gaotanyan Street, Chongqing, 400038, China.
Wei LiaoDepartment of Pediatrics, First Affiliated Hospital to Army Medical University, No. 30, Gaotanyan Street, Chongqing, 400038, China. liaowei01@163.com.ORCID 0000-0003-3009-7133
Army Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPNPLA2 gene mutations cause neutral lipid storage disease with myopathy (NLSD-M) or cardiomyopathies. The clinical phenotype, blood test results, imaging examination and gene analysis can be used to improve the understanding of NLSD-M, reduce the misdiagnosis rate and prevent physical disability and even premature death. CASE PRESENTATION: We report a Chinese child with NLSD-M presenting with marked asymmetric skeletal myopathy and hypertrophic cardiomyopathy. Blood biochemical tests revealed increased creatine kinase levels, and echocardiography revealed a diffuse and thick left ventricular wall. Gene analysis revealed a homozygous mutation c.155C > G (p.Thr52Arg) in PNPLA2.

conclusionsAn understanding of the characteristic features is essential for the early diagnosis of NLSD-M. Our data expand the allelic spectrum of PNPLA2 mutations, providing further evidence for genetic and clinical NLSD-M heterogeneity in younger individuals.

Indexed as

AcyltransferasesBase SequenceCardiomegalyCardiomyopathiesChildCreatine KinaseDNA Mutational AnalysisEarly DiagnosisGene ExpressionHeart VentriclesHumansLipaseLipid Metabolism, Inborn ErrorsMaleMuscular DiseasesMutationAcyltransferasesCreatine KinaseLipasePNPLA2 protein, humanChildrenGene mutationNLSD-MPNPLA2

Identifiers

PMID30223778
PMCPMC6142338
OpenAlexW2891882111

What OpenQuestion holds

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LicenceCC BY
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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.