ArticleActa neuropathologica communications2019
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.
Article in Acta neuropathologica communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 29 citations in OpenAlex.
- Enzymology of the metazoan tRNA ligase complex: a lifetime in cycles.Cellular and molecular life sciences : CMLS · 2026Review
- Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.Acta neuropathologica communications · 2026Article
- Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2026Article
- Recent insights into limb-girdle muscular dystrophy: Impacts, therapy, and challenges.Histology and histopathology · 2025Review
- Ablation of LAT2 Transporter Causes Intramuscular Glutamine Accumulation and Inhibition of Fasting-Induced Proteolysis.Journal of cachexia, sarcopenia and muscle · 2025Article
- Padua Days on Muscle and Mobility Medicine, March 25-29, 2025, Hotel Petrarca, Euganean Thermae, Italy: Program and Abstracts.European journal of translational myology · 2025Article
- A rare case of myopathy with fatigability due toJournal of neuromuscular diseases · 2025Article
- Congenital myopathies: pathophysiological mechanisms and promising therapies.Journal of translational medicine · 2024Review
- Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.Genome medicine · 2024Article
- Article
- A 53-year-old man with a 16-year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging.Brain pathology (Zurich, Switzerland) · 2023Article
- Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.Human molecular genetics · 2023Article
- Tandem Mass Tagging-Based Quantitative Proteomics Analysis Reveals Damage to the Liver and Brain ofAntioxidants (Basel, Switzerland) · 2022Article
- Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.Neurogenetics · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.Neuropathology : official journal of the Japanese Society of Neuropathology · 2020Article
- Top ten discoveries of the year: Neuromuscular disease.Free neuropathology · 2020Article
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
Abstract
Recessive mutations in PYROXD1, encoding an oxidoreductase, were recently reported in families with congenital myopathy or limb-girdle muscular dystrophy. Here we describe three novel PYROXD1 families at the clinical, histological, and genetic level. Histological analyses on muscle biopsies from all families revealed fiber size variability, endomysial fibrosis, and muscle fibers with multiple internal nuclei and cores. Further characterization of the structural muscle defects uncovered aggregations of myofibrillar proteins, and provided evidence for enhanced oxidative stress. Sequencing identified homozygous or compound heterozygous PYROXD1 mutations including the first deep intronic mutation reinforcing a cryptic donor splice site and resulting in mRNA instability through exonisation of an intronic segment. Overall, this work expands the PYROXD1 mutation spectrum, defines and specifies the histopathological hallmarks of the disorder, and indicates that oxidative stress contributes to the pathomechanism. Comparison of all new and published cases uncovered a genotype/phenotype correlation with a more severe and early-onset phenotypic presentation of patients harboring splice mutations resulting in reduced PYROXD1 protein levels compared with patients carrying missense mutations.
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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.