Evidence map›Paper›PMID 32684384›Full record

ArticleNeuromuscular disorders : NMD2020

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.

Albert Z Lim, Grace McMacken, Francesca Rastelli, Monika Oláhová, Karen Baty, Sila Hopton, Gavin Falkous, Ana Töpf, Hanns Lochmüller, Chiara Marini-Bettolo and 2 more

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

Article in Neuromuscular disorders : NMD, 2020. 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
0.7field-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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Review
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

12 authors at 4 institutions in 4 countries.

Albert Z LimWellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
Grace McMackenThe John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK; Department of Neurosciences, Royal Victoria Hospital, Belfast Health and Social Care Trust, Belfast, UK.
Francesca RastelliWellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
Monika OláhováWellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Karen BatyWellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, UK.
Sila HoptonWellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, UK.
Gavin FalkousWellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, UK.
Ana TöpfThe John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
Hanns LochmüllerDepartment of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain; Research Institute, Children's Hospital of Eastern Ontario, Ottawa, Canada; Division of Neurology, Department of Medicine, Ottawa University, Ottawa, Canada.
Chiara Marini-BettoloThe John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
Robert McFarlandWellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom. Electronic address: robert.mcfarland@ncl.ac.uk.
Robert W TaylorWellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
Newcastle University · GBWellcome Centre for Mitochondrial Research · GBCentro Nacional de Análisis Genómico · ESUniversity of Ulster · GB

Funding

Biotechnology and Biological Sciences Research Council L016354Department of HealthMedical Research Council G0800674Wellcome TrustWellcome Trust 203105/Z/16/Z
6 · The paper itself

Abstract

Mitochondrial DNA (mtDNA)-related diseases often pose a diagnostic challenge and require rigorous clinical and laboratory investigation. Pathogenic variants in the mitochondrial tRNA gene MT-TY, which encodes the tRNA

Indexed as

AdolescentBiopsyDNA, MitochondrialHumansMaleMitochondriaMitochondrial MyopathiesMuscle, SkeletalMuscle WeaknessMutationDNA, MitochondrialCongenital myasthenia syndromes (CMS)Mitochondrial diseasemtDNA tRNA variantMTTY geneMuscle biopsy

Identifiers

PMID32684384
PMCPMC7477489
OpenAlexW3037046932

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.