Evidence map›Paper›PMID 33304817›Full record

ArticleMolecular genetics and metabolism reports2020

Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.

Ioannis Zaganas, Vasilios Mastorodemos, Martha Spilioti, Lambros Mathioudakis, Helen Latsoudis, Kleita Michaelidou, Dimitra Kotzamani, Konstantinos Notas, Konstantinos Dimitrakopoulos, Irene Skoula and 9 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.4field-weighted citation impact, top 39% 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

6 citing papers in PubMed, 10 citations in OpenAlex.

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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

19 authors at 6 institutions in 2 countries.

Ioannis ZaganasNeurogenetics Laboratory, Medical School, University of Crete, Heraklion, Crete, Greece.
Vasilios MastorodemosNeurology Department, University Hospital of Crete, Heraklion, Crete, Greece.
Martha SpiliotiAHEPA General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Lambros MathioudakisNeurogenetics Laboratory, Medical School, University of Crete, Heraklion, Crete, Greece.
Helen LatsoudisNeurogenetics Laboratory, Medical School, University of Crete, Heraklion, Crete, Greece.
Kleita MichaelidouNeurogenetics Laboratory, Medical School, University of Crete, Heraklion, Crete, Greece.
Dimitra KotzamaniNeurogenetics Laboratory, Medical School, University of Crete, Heraklion, Crete, Greece.
Konstantinos NotasAHEPA General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Konstantinos DimitrakopoulosHippokratio General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Irene SkoulaNeurogenetics Laboratory, Medical School, University of Crete, Heraklion, Crete, Greece.
Stefanos IoannidisNeurology Department, University Hospital of Crete, Heraklion, Crete, Greece.
Eirini KlothakiNeurology Department, University Hospital of Crete, Heraklion, Crete, Greece.
Sophia ErimakiNeurophysiology Unit, University Hospital of Crete, Heraklion, Crete, Greece.
Georgios StavropoulosHippokratio General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Vassilios VassilikosHippokratio General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Georgios AmoiridisNeurophysiology Unit, University Hospital of Crete, Heraklion, Crete, Greece.
Georgios EfthimiadisAHEPA General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Athanasios EvangeliouPapageorgiou General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Panayiotis MitsiasNeurology Department, University Hospital of Crete, Heraklion, Crete, Greece.
University Hospital of Heraklion · GRUniversity of Crete · GRAristotle University of Thessaloniki · GRIppokrateio General Hospital of Thessaloniki · GRAHEPA University Hospital · GRPapageorgiou General Hospital · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inherited muscle disorders are caused by pathogenic changes in numerous genes. Herein, we aimed to investigate the etiology of muscle disease in 24 consecutive Greek patients with myopathy suspected to be genetic in origin, based on clinical presentation and laboratory and electrophysiological findings and absence of known acquired causes of myopathy. Of these, 16 patients (8 females, median 24 years-old, range 7 to 67 years-old) were diagnosed by Whole Exome Sequencing as suffering from a specific type of inherited muscle disorder. Specifically, we have identified causative variants in 6 limb-girdle muscular dystrophy genes (6 patients;

Indexed as

Genetic diagnosisGeneticsInherited myopathyLimb-girdle muscular dystrophyWhole exome sequencing

Identifiers

PMID33304817
PMCPMC7711282
OpenAlexW3109490806

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.