Evidence map›Paper›PMID 36659963›Full record

ArticleFrontiers in genetics2022

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare

Nurul Huda Musa, Karuppiah Thilakavathy, Nur Afiqah Mohamad, Marina L Kennerson, Liyana Najwa Inche Mat, Wei Chao Loh, Anna Misyail Abdul Rashid, Janudin Baharin, Azliza Ibrahim, Wan Aliaa Wan Sulaiman and 3 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 44% 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, 3 citations in OpenAlex.

  1. Article
  2. Article
  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

13 authors at 3 institutions in 2 countries.

Nurul Huda MusaDepartment of Biomedical Science, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
Karuppiah ThilakavathyDepartment of Biomedical Science, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
Nur Afiqah MohamadDepartment of Neurology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
Marina L KennersonNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Liyana Najwa Inche MatDepartment of Neurology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
Wei Chao LohDepartment of Neurology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
Anna Misyail Abdul RashidDepartment of Neurology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
Janudin BaharinDepartment of Neurology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
Azliza IbrahimDepartment of Neurology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
Wan Aliaa Wan SulaimanDepartment of Neurology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
Fan Kee HooDepartment of Neurology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
Hamidon BasriDepartment of Neurology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
Abdul Hanif Khan Yusof KhanDepartment of Neurology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
Universiti Putra Malaysia · MYAnzac Research Institute · AUUniversiti Teknologi MARA · MY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the

Indexed as

autosomal dominantcase reportchloride channelCLCN1myotonia congenitaThomsen disease

Identifiers

PMID36659963
PMCPMC9842662
OpenAlexW4313519095

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.