Evidence map›Paper›PMID 23329710›Full record

ArticleBMJ case reports2013

Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy.

Hugh P Sims-Williams, Helen J Nye, Paul R Walker

Abstract readCase Reports
In one paragraph

Article in BMJ case reports, 2013. 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
–field-weighted citation impact
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.

  1. Cardiac Alterations in Patients with Familial Lipodystrophy.Arquivos brasileiros de cardiologia · 2020
    Review
  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

3 authors.

Hugh P Sims-WilliamsDepartment of Neurology, University Hospital of North Staffordshire, Stoke on Trent, UK. simswilliams@doctors.org.uk
Helen J Nye
Paul R Walker

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in the lamin A/C (LMNA) gene cause significant disruption to skeletal and myocardial muscle, as well as nervous tissue. We describe a case illustrating varied manifestations of a LMNA mutation and the implications for diagnosis and management. We turn to several family studies that describe considerable phenotypic variation arising from LMNA mutations. The discussion focuses on educating the reader in recognition of potential presentations of LMNA mutations.

Indexed as

Mutation, MissenseCardiomyopathy, DilatedDNADNA Mutational AnalysisEchocardiographyElectrocardiographyHumansLamin Type ALipodystrophyMaleMiddle AgedMuscular DiseasesPedigreePhenotypeDNALamin Type ALMNA protein, human

Identifiers

PMID23329710
PMCPMC3603541

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.