Evidence map›Paper›PMID 32351701›Full record

ArticleHuman genome variation2020

Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel

Tetsuya Okazaki, Kaori Matsuura, Noriko Kasagi, Kaori Adachi, Masachika Kai, Mariko Okubo, Ichizo Nishino, Eiji Nanba, Yoshihiro Maegaki

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

Article in Human genome variation, 2020. 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
0.3field-weighted citation impact, top 44% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Molecular Study of the Fukutin-Related Protein (International journal of molecular sciences · 2024
    Article
  5. Novel mutations in theFrontiers in genetics · 2023
    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.

Tetsuya Okazaki1Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
Kaori Matsuura1Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
Noriko Kasagi1Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
Kaori Adachi2Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, Yonago, Japan.
Masachika Kai3Technical Department, Tottori University, Yonago, Japan.
Mariko Okubo4Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Ichizo Nishino4Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.ORCID 0000-0001-9452-112X
Eiji Nanba1Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
Yoshihiro Maegaki1Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
Tottori University Hospital · JPNational Center of Neurology and Psychiatry · JPTottori University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous

Indexed as

Genetic testingNeuromuscular disease

Identifiers

PMID32351701
PMCPMC7171098
OpenAlexW3017212044

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.