Evidence map›Paper›PMID 34670883›Full record

ArticleInternal medicine (Tokyo, Japan)2022

A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.

Yasuteru Sano, Satoko Ota, Mariko Oishi, Masaya Honda, Masatoshi Omoto, Motoharu Kawai, Mariko Okubo, Ichizo Nishino, Takashi Kanda

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. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 33% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Heliyon · 2024
    Article
  2. 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

9 authors at 3 institutions in 1 country.

Yasuteru SanoDepartment of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan.
Satoko OtaDepartment of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan.
Mariko OishiDepartment of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan.
Masaya HondaDepartment of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan.
Masatoshi OmotoDepartment of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan.
Motoharu KawaiDepartment of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan.
Mariko OkuboDepartment of Neuromuscular Research, National Institute of Neuroscience, Japan.
Ichizo NishinoDepartment of Neuromuscular Research, National Institute of Neuroscience, Japan.
Takashi KandaDepartment of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan.
Yamaguchi University · JPNational Center of Neurology and Psychiatry · JPTokyo Metropolitan Neurological Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and is considered quite rare. Respiratory insufficiency can be the sole symptom in the disease course. We herein report the first Japanese HMERF patient with a p.P31732L mutation in titin. The patient manifested respiratory failure and mild weakness of the neck flexor muscle at 69 years old and showed fatty replacement of the bilateral semitendinosus muscles on muscle imaging. Our case indicates that HMERF with a heterozygous p.P31732L mutation should be included in the differential diagnosis of muscular diseases presenting with early respiratory failure.

Indexed as

ConnectinMuscular DiseasesRespiratory InsufficiencyAgedGenetic Diseases, InbornHumansJapanMuscle, SkeletalMutationConnectinTTN protein, humancytoplasmic bodyhereditary myopathy with early respiratory failure (HMERF)myofibrillar myopathysemitendinosus muscle

Identifiers

PMID34670883
PMCPMC9177377
OpenAlexW3205621509

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.