Evidence map›Paper›PMID 36792185›Full record

ArticleInternal medicine (Tokyo, Japan)2023

Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects.

Ichiro Nozaki, Akihiro Hashiguchi, Hiroshi Takashima, Yoko Yamashita, Tomomi Higashide, Kazuo Iwasa, Kenjiro Ono

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

Article in Internal medicine (Tokyo, Japan), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 98% 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

1 citing paper in PubMed, 0 citations in OpenAlex.

  1. 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

7 authors at 2 institutions in 1 country.

Ichiro NozakiDepartment of Neurology, Kanazawa University Graduate School of Medical Sciences, Japan.
Akihiro HashiguchiDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Hiroshi TakashimaDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Yoko YamashitaDepartment of Opthalmology and Visual Science, Kanazawa University Graduate School of Medical Sciences, Japan.
Tomomi HigashideDepartment of Opthalmology and Visual Science, Kanazawa University Graduate School of Medical Sciences, Japan.
Kazuo IwasaDepartment of Neurology, Kanazawa University Graduate School of Medical Sciences, Japan.
Kenjiro OnoDepartment of Neurology, Kanazawa University Graduate School of Medical Sciences, Japan.
Kanazawa University · JPKagoshima University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants in Gap Junction Protein Beta 1 (GJB1) cause X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMTX1), which is a common hereditary motor and sensory neuropathy. A 45-year-old man presented with progressive muscle weakness, atrophy, sensory disturbance of all limbs from childhood, and visual field defects in both eyes at 40 years old. A segregation analysis revealed a novel variant, c.173C>A (p.P58H), in the GJB1 gene. Patients with variants at codon 58 in GJB1 showed clinically varied phenotypes, ranging from demyelinating neuropathy to cerebellar ataxia. This patient may represent one of the various clinical phenotypes of GJB1 variants.

Indexed as

Charcot-Marie-Tooth DiseaseAdultChildConnexinsHumansMaleMiddle AgedMutationPhenotypeVisual FieldsConnexinsconnexin 32gap junction channelGap Junction Protein Beta 1 (GJB1)X-linked Charcot-Marie-Tooth disease type 1

Identifiers

PMID36792185
PMCPMC10641200
OpenAlexW4320717586

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.