Evidence map›Paper›PMID 32117035›Full record

ArticleFrontiers in neurology2020

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in

Nathaniel Elia, Trystan Nault, Hugh J McMillan, Gail E Graham, Lijia Huang, Stephen C Cannon

Erratum issuedOpen access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 36% 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Pooled it
  2. Case report: NovelFrontiers in pediatrics · 2022
    Article
  3. p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    Article
  4. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 2 countries.

Nathaniel EliaDepartment of Physiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States.
Trystan NaultDivision of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Hugh J McMillanDivision of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Gail E GrahamDepartment of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Lijia HuangDepartment of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Stephen C CannonDepartment of Physiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States.
Children's Hospital of Eastern Ontario · CAUniversity of California, Los Angeles · USUniversity of Ottawa · CA

Funding

Molecular Physiology of Myotonia and Periodic ParalysisR37AR042703 · NIAMS · UT SOUTHWESTERN MEDICAL CENTER · PI CANNON, STEPHEN C. · 2008 to 2018
$4.2M
MOLECULAR PHYSIOLOGY OF NEUROMUSCULAR DISEASESR01AR042703 · NIAMS · UT SOUTHWESTERN MEDICAL CENTER · PI CANNON, STEPHEN C. · 1994 to 2007
$2.4M
Training in Molecular, Cellular &Integrative PhysiologyT32GM065823 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI TIDBALL, JAMES G · 2003 to 2017
$2.1M
NIAMS NIH HHS R01 AR042703NIAMS NIH HHS R37 AR042703NIGMS NIH HHS T32 GM065823
6 · The paper itself

Abstract

The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene (

Indexed as

channelopathymyotoniaNaV1.4skeletal musclesodium channelvoltage-clamp

Identifiers

PMID32117035
PMCPMC7031655
OpenAlexW3005746464

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.