Evidence map›Paper›PMID 34803088›Full record

ArticleInternal medicine (Tokyo, Japan)2022

An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness.

Yasuyoshi Kimura, Akira Nishikawa, Akihiro Hashiguchi, Masaki Etoh, Akiko Yoshimura, Kanako Asai, Noriko Miyashita, Hiroshi Takashima, Hisae Sumi, Takashi Naka

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

Article in Internal medicine (Tokyo, Japan), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.1field-weighted citation impact, top 55% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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

10 authors at 3 institutions in 1 country.

Yasuyoshi KimuraDepartment of Neurology, Higashiosaka City Medical Center, Japan.
Akira NishikawaDepartment of Neurology, Higashiosaka City Medical Center, Japan.
Akihiro HashiguchiDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Masaki EtohEtoh Clinic, Japan.
Akiko YoshimuraDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Kanako AsaiDepartment of Neurology, Higashiosaka City Medical Center, Japan.
Noriko MiyashitaDepartment of Neurology, Higashiosaka City Medical Center, Japan.
Hiroshi TakashimaDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Hisae SumiDepartment of Neurology, Higashiosaka City Medical Center, Japan.
Takashi NakaDepartment of Neurology, Higashiosaka City Medical Center, Japan.
Kagoshima University · JPOno Clinic · JPOsaka University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Charcot-Marie-Tooth disease (CMT) is a common hereditary peripheral polyneuropathy encompassing distinct monogenetic disorders. Pathogenic mutations in mitofusin 2 (MFN2) are the most frequent cause of its axonal type, CMT type 2A, with diverse phenotypes. We herein report a Japanese patient with a novel heterozygous MFN2 pathogenic variant (c.740 G>C, p.R247P) and severe CMT phenotypes, including progressive muscle weakness, optic atrophy, urinary inconsistency, and restrictive pulmonary dysfunction with eventration of the diaphragm that developed over her 60-year disease course. Our case expands the clinico-genetic features of MFN2-related CMT and highlights the need to evaluate infrequent manifestations during long-term care of CMT patients.

Indexed as

Charcot-Marie-Tooth DiseaseOptic AtrophyUrinary Bladder, NeurogenicAtrophyFemaleGTP PhosphohydrolasesHumansHydrolasesMitochondrial ProteinsMuscle WeaknessMutationOptic NerveGTP PhosphohydrolasesHydrolasesMFN2 protein, humanMitochondrial ProteinsCharcot-Marie-Tooth diseasediaphragmatic weaknesshereditary motor sensory neuropathymitofusin 2neurogenic bladderrestrictive pulmonary dysfunction

Identifiers

PMID34803088
PMCPMC9259307
OpenAlexW3214993505

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.