Evidence map›Paper›PMID 34121014›Full record

ArticleInternal medicine (Tokyo, Japan)2021

MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations.

Haitian Nan, Takanori Hata, Toko Fukao, Toshimichi Fukao, Wanjing Chen, Takafumi Kurita, Takahiro Natori, Yoshihisa Takiyama

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PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Review
  2. Article
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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

8 authors.

Haitian NanDepartment of Neurology, University of Yamanashi, Japan.
Takanori HataDepartment of Neurology, University of Yamanashi, Japan.
Toko FukaoDepartment of Neurology, University of Yamanashi, Japan.
Toshimichi FukaoDepartment of Pediatrics, University of Yamanashi, Japan.
Wanjing ChenDepartment of Ophthalmology, University of Yamanashi, Japan.
Takafumi KuritaDepartment of Neurology, University of Yamanashi, Japan.
Takahiro NatoriDepartment of Neurology, University of Yamanashi, Japan.
Yoshihisa TakiyamaDepartment of Neurology, University of Yamanashi, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We herein describe a Charcot-Marie-Tooth disease (CMT) family with a MFN2 mutation with atypical ocular manifestations. The proband, his mother, his third daughter, and his deceased maternal grandfather all had symptoms of CMT and a visual impairment (either cataracts or severe astigmatism). On whole-exome sequencing for the proband having CMT and congenital cataracts, we identified a c.314C>T (p.Thr105Met) mutation in MFN2, but no mutation in the causative genes associated with cataracts. This missense mutation in MFN2 co-segregated with CMT and the atypical ocular manifestations in this family. The findings of this study might help to expand the clinical phenotype of heterogeneous MFN2-related CMT.

Indexed as

Charcot-Marie-Tooth DiseaseFemaleGTP PhosphohydrolasesHumansMitochondrial ProteinsMothersPhenotypeGTP PhosphohydrolasesMFN2 protein, humanMitochondrial ProteinsastigmatismcataractsCharcot-Marie-Tooth diseaseMFN2visual impairment

Identifiers

PMID34121014
PMCPMC8758439

What OpenQuestion holds

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Registered trials

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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.