ArticleCase reports in genetics2018
A Rare Case of Severe Congenital RYR1-Associated Myopathy.
Article in Case reports in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy-a case of severe neonatal presentation due to aFrontiers in pediatrics · 2026Article
- A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.The Journal of general physiology · 2024Article
- A Call for Increased Focus on Fractures in Congenital Myopathy Infants.Indian journal of pediatrics · 2024Article
- Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.Journal of neuromuscular diseases · 2023Article
- Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?Brain sciences · 2021Review
- Early Findings in Neonatal Cases ofFrontiers in neurology · 2021Article
- iPSC-derived progenitor stromal cells provide new insights into aberrant musculoskeletal development and resistance to cancer in down syndrome.Scientific reports · 2020Article
- Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.Journal of neuropathology and experimental neurology · 2019Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness. We report clinical and genetic characteristics of a male preterm newborn, whose phenotype was characterized by severe hypotonia and hyporeactivity, serious respiratory distress syndrome that required mechanical ventilation, clubfoot, and other dysmorphic features. The diagnostic procedure was completed with the complete exome sequencing of the proband and of his parents and his sister, which showed new mutations in the ryanodine receptor gene (RYR1), which maps to chromosome 19q13.2 and encodes the skeletal muscle isoform of a calcium-release channel in the sarcoplasmic reticulum (RyR1). This report confirms that early diagnosis and accurate study of genomic disorders are very important, enabling proper genetic counselling of the reproductive risk, as well as disease prognosis and patient management.
Identifiers
What OpenQuestion holds
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.