Evidence map›Paper›PMID 32037607›Full record

ArticleNeuropathology : official journal of the Japanese Society of Neuropathology2020

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.

Jeremy D Woods, Negar Khanlou, Hane Lee, Rebecca Signer, Perry Shieh, Johnathan Chen, Matthew Herzog, Christina Palmer, Julian Martinez-Agosto, Undiagnosed Diseases Network and 1 more

Registry-linked trialOpen access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Neuropathology : official journal of the Japanese Society of Neuropathology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.5field-weighted citation impact, top 38% 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.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 9 citations in OpenAlex.

  1. Enzymology of the metazoan tRNA ligase complex: a lifetime in cycles.Cellular and molecular life sciences : CMLS · 2026
    Review
  2. Article
  3. A rare case of myopathy with fatigability due toJournal of neuromuscular diseases · 2025
    Article
  4. BMJ case reports · 2024
    Article
  5. Article
  6. 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

11 authors at 1 institution in 1 country.

Jeremy D WoodsDepartment of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.ORCID https://orcid.org/0000-0002-3988-9324
Negar KhanlouDepartment of Pathology, University of California Los Angeles, Los Angeles, California, USA.
Hane LeeDepartment of Pathology, University of California Los Angeles, Los Angeles, California, USA.
Rebecca SignerDepartment of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.
Perry ShiehDepartment of Neurology, University of California Los Angeles, Los Angeles, California, USA.
Johnathan ChenDepartment of Radiology, University of California Los Angeles, Los Angeles, California, USA.
Matthew HerzogDepartment of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.
Christina PalmerDepartment of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.
Julian Martinez-AgostoDepartment of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.
Undiagnosed Diseases Network
Stanley F NelsonDepartment of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.
University of California, Los Angeles · US

Funding

Coordinating Center for the Undiagnosed Diseases NetworkU01HG007530 · NHGRI · HARVARD MEDICAL SCHOOL · PI KOHANE, ISAAC S. · 2014 to 2022
$30.2M
UCLA clinical site for the investigation of undiagnosed disordersU01HG007703 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2014 to 2022
$10.1M
UCLA IDDRC: Translational CoreP50HD103557 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Peyman Golshani, SUMA JACOB · 2020 to 2026
$9.6M
UCLA Medical Genetics Training ProgramT32GM008243 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Julian Martinez-Agosto, STANLEY F. NELSON · 1987 to 2026
$6.8M
NHGRI NIH HHS U01 HG007530NHGRI NIH HHS U01 HG007703NICHD NIH HHS P50 HD103557NIGMS NIH HHS T32 GM008243
6 · The paper itself

Abstract

Biallelic pathogenic variants in the gene PYROXD1 have recently been described to cause early-onset autosomal recessive myopathy. Myopathy associated with PYROXD1 pathogenic variants is rare and reported in only 17 individuals. Known pathogenic variants in PYROXD1 include missense, insertion and essential splice-site variants. Here we describe a consanguineous family of individuals affected with late-onset myopathy and homozygous PYROXD1 missense variants (NM_024854.5:c.464A>G [p.Asn155Ser]) expanding our understanding of the possible disease phenotypes of PYROXD1-associated myopathy.

Indexed as

AdultAgedAged, 80 and overFemaleHomozygoteHumansMaleMiddle AgedMuscular DiseasesMutation, MissenseOxidoreductases Acting on Sulfur Group DonorsPedigreeOxidoreductases Acting on Sulfur Group DonorsPYROXD1 protein, humangenome sequencinglobulate myopathyrare diseasetrabecular myopathyundiagnosed diseases network

Identifiers

PMID32037607
PMCPMC7317439
OpenAlexW3006190022

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.