Evidence map›Paper›PMID 32939402›Full record

ArticleeNeurologicalSci2020

An adult nemaline myopathy patient with respiratory and heart failure harboring a novel

Masahiro Ohara, Yoshihiko Saito, Mutsufusa Watanabe, Saneyuki Mizutani, Masaki Kobayashi, Aritoshi Iida, Ichizo Nishino, Hiroto Fujigasaki

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

Article in eNeurologicalSci, 2020. 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 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. 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 at 4 institutions in 1 country.

Masahiro OharaDepartment of Internal Medicine, Tokyo, Metropolitan Bokutoh Hospital, Japan.
Yoshihiko SaitoDepartment of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.
Mutsufusa WatanabeDepartment of Internal Medicine, Tokyo, Metropolitan Bokutoh Hospital, Japan.
Saneyuki MizutaniDepartment of Internal Medicine, Tokyo, Metropolitan Bokutoh Hospital, Japan.
Masaki KobayashiDepartment of Neurology, Nissan Tamagawa Hospital, 4-8-1 Seta, Setagaya-ku, Tokyo 158-0095, Japan.
Aritoshi IidaMedical Genome Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.
Ichizo NishinoDepartment of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.
Hiroto FujigasakiDepartment of Internal Medicine, Tokyo, Metropolitan Bokutoh Hospital, Japan.
National Center of Neurology and Psychiatry · JPTokyo Metropolitan Bokutoh Hospital · JPNissan Tamagawa Hospital · JPTokyo Medical and Dental University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later also distal muscle weakness, mostly involving facial and respiratory muscle. Cardiac involvement has been rarely observed especially in nebulin-related nemaline myopathy and there have been only two reports about nebulin-related nemaline myopathy patients with cardiac involvement. We present here the case of a 65-year-old woman manifesting slowly progressive distal myopathy with respiratory and heart failure. She harbored two variants in the nebulin gene, c.20131C > T (p.Arg6711Trp) and c.674C > T (p.Pro225Leu), and one of them, c.674C > T, was a novel variant. In this report, we discuss the pathogenicity of the novel variant and its association with clinical phenotypes including cardiac involvement.

Indexed as

bpm, beats per minuteCK, creatine kinaseCongenitalECG, electrocardiographyHeart failureLVOT, left ventricular outflow trackLVOT-VTI, LVOT-velocity time integral.Nebulin (NEB)Nemaline myopathyNM, nemaline myopathyRespiratory failureTTE, transthoracic echocardiography

Identifiers

PMID32939402
PMCPMC7479285
OpenAlexW3080583309

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.