Evidence map›Paper›PMID 33420945›Full record

ArticleJournal of applied genetics2021

Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.

Janusz G Zimowski, Joanna Purzycka, Magdalena Pawelec, Katarzyna Ozdarska, Jacek Zaremba

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of applied genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 42% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. 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

5 authors at 1 institution in 1 country.

Janusz G ZimowskiDepartment of Genetics, Institute of Psychiatry and Neurology, 02-957, Sobieskiego 9, Warsaw, Poland. zimowski@ipin.edu.pl.ORCID http://orcid.org/0000-0002-3311-0359
Joanna PurzyckaDepartment of Genetics, Institute of Psychiatry and Neurology, 02-957, Sobieskiego 9, Warsaw, Poland.
Magdalena PawelecDepartment of Genetics, Institute of Psychiatry and Neurology, 02-957, Sobieskiego 9, Warsaw, Poland.
Katarzyna OzdarskaDepartment of Genetics, Institute of Psychiatry and Neurology, 02-957, Sobieskiego 9, Warsaw, Poland.
Jacek ZarembaDepartment of Genetics, Institute of Psychiatry and Neurology, 02-957, Sobieskiego 9, Warsaw, Poland.
Institute of Psychiatry and Neurology · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In the 164 patients with Duchenne/Becker muscular dystrophy, we found 142 different small mutations including 51 novel mutations not listed in the LOVD, the UMD-DMD, the ClinVar, and the HGMD databases. Among all mutations, nonsense mutations occurred in 45.7%, frameshift mutations in 32.9%, and splicing mutations in 19.5%. Small mutations were distributed throughout the whole dystrophin gene. Splicing mutations were twice more common in BMD patients than in DMD patients. Eighty-two percent of mothers of the males affected with DMD/BMD were found to be carriers of small mutations.

Indexed as

Muscular Dystrophy, DuchenneMutationDystrophinExonsFemaleHeterozygoteHumansMalePolandDystrophinBMDCarriersDMDNovel mutationsPoint mutationsSmall mutations

Identifiers

PMID33420945
OpenAlexW3120312307

What OpenQuestion holds

Textmetadata
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.