ArticleGenes & diseases2018
Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy.
Article in Genes & diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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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.
The trial behind it
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Distal Myopathy and Kyphoscoliosis Associated with a Kyphoscoliosis Peptidase Gene Mutation: A Rare Case.Annals of Indian Academy of Neurology · 2026Article
- Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?Journal of neuromuscular diseases · 2026Article
- Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant.Journal of human genetics · 2024Article
- A novel homozygous KY variant causing a complex neurological disorder.European journal of medical genetics · 2020Article
- Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to theCase reports in cardiology · 2020Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myofibrillar myopathies (MFMs) are rare genetic and slowly progressive neuromuscular disorders. Several pathogenic mutations have been reported in MFM-related genes including
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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.