Evidence map›Paper›PMID 28202702›Full record

ArticleNeurology2017

Congenital myopathy associated with the triadin knockout syndrome.

Andrew G Engel, Keeley R Redhage, David J Tester, Michael J Ackerman, Duygu Selcen

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

Article in Neurology, 2017. 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
2.0field-weighted citation impact, top 13% 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, 18 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

5 authors at 1 institution in 1 country.

Andrew G EngelFrom the Departments of Neurology and Muscle Research Laboratory (A.G.E., D.S.), Cardiovascular Diseases/Division of Heart Rhythm Services (A.G.E., D.S.), Pediatric and Adolescent Medicine/Division of Pediatric Cardiology (K.R.R., D.J.T., M.J.A.), and Molecular Pharmacology & Experimental Therapeutics/Windland Smith Rice Sudden Death Genomics Laboratory (K.R.R., D.J.T., M.J.A.), Mayo College of Medicine, Rochester, MN. age@mayo.edu.
Keeley R RedhageFrom the Departments of Neurology and Muscle Research Laboratory (A.G.E., D.S.), Cardiovascular Diseases/Division of Heart Rhythm Services (A.G.E., D.S.), Pediatric and Adolescent Medicine/Division of Pediatric Cardiology (K.R.R., D.J.T., M.J.A.), and Molecular Pharmacology & Experimental Therapeutics/Windland Smith Rice Sudden Death Genomics Laboratory (K.R.R., D.J.T., M.J.A.), Mayo College of Medicine, Rochester, MN.
David J TesterFrom the Departments of Neurology and Muscle Research Laboratory (A.G.E., D.S.), Cardiovascular Diseases/Division of Heart Rhythm Services (A.G.E., D.S.), Pediatric and Adolescent Medicine/Division of Pediatric Cardiology (K.R.R., D.J.T., M.J.A.), and Molecular Pharmacology & Experimental Therapeutics/Windland Smith Rice Sudden Death Genomics Laboratory (K.R.R., D.J.T., M.J.A.), Mayo College of Medicine, Rochester, MN.
Michael J AckermanFrom the Departments of Neurology and Muscle Research Laboratory (A.G.E., D.S.), Cardiovascular Diseases/Division of Heart Rhythm Services (A.G.E., D.S.), Pediatric and Adolescent Medicine/Division of Pediatric Cardiology (K.R.R., D.J.T., M.J.A.), and Molecular Pharmacology & Experimental Therapeutics/Windland Smith Rice Sudden Death Genomics Laboratory (K.R.R., D.J.T., M.J.A.), Mayo College of Medicine, Rochester, MN.
Duygu SelcenFrom the Departments of Neurology and Muscle Research Laboratory (A.G.E., D.S.), Cardiovascular Diseases/Division of Heart Rhythm Services (A.G.E., D.S.), Pediatric and Adolescent Medicine/Division of Pediatric Cardiology (K.R.R., D.J.T., M.J.A.), and Molecular Pharmacology & Experimental Therapeutics/Windland Smith Rice Sudden Death Genomics Laboratory (K.R.R., D.J.T., M.J.A.), Mayo College of Medicine, Rochester, MN.
Mayo Clinic · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTriadin is a component of the calcium release complex of cardiac and skeletal muscle. Our objective was to analyze the skeletal muscle phenotype of the triadin knockout syndrome.

methodsWe performed clinical evaluation, analyzed morphologic features by light and electron microscopy, and immunolocalized triadin in skeletal muscle.

resultsA 6-year-old boy with lifelong muscle weakness had a triadin knockout syndrome caused by compound heterozygous null mutations in triadin. Light microscopy of a deltoid muscle specimen shows multiple small abnormal spaces in all muscle fibers. Triadin immunoreactivity is absent from type 1 fibers and barely detectable in type 2 fibers. Electron microscopy reveals focally distributed dilation and degeneration of the lateral cisterns of the sarcoplasmic reticulum and loss of the triadin anchors from the preserved lateral cisterns.

conclusionsAbsence of triadin in humans can result in a congenital myopathy associated with profound pathologic alterations in components of the sarcoplasmic reticulum. Why only some triadin-deficient patients develop a skeletal muscle phenotype remains an unsolved question.

Indexed as

Myotonia CongenitaArrhythmias, CardiacCarrier ProteinsChildElectrocardiographyHumansMaleMicroscopy, Electron, TransmissionMuscle ProteinsMuscle, SkeletalMutationSarcoplasmic ReticulumCarrier ProteinsMuscle ProteinsTRDN protein, human

Identifiers

PMID28202702
PMCPMC5373784
OpenAlexW2589103447

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.