ArticleCureus2023
Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report.
Article in Cureus, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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.
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.
Who cites it
3 citing papers in PubMed.
- Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint.Genes · 2026Review
- Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.Brain : a journal of neurology · 2025Article
- Identification and Properties of TRPV4 Mutant Channels Present in Polycystic Kidney Disease Patients.Function (Oxford, England) · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Transient receptor potential vanilloid 4 (TRPV4) mutations are known to cause inherited axonal neuropathies and skeletal dysplasia. TRPV4 mutations are associated with distal hereditary motor neuropathies (dHMN), which distinctly involve motor deficits. A 1 ½-year-old boy presented at the clinic with diminished lower limb movement and ambulatory limitations. The patient was born with bilateral knee arthrogryposis and bilateral talipes equinovarus, which required surgical intervention. A gross neurologic exam was unremarkable, with normal vision and hearing. A bone survey radiograph showed no evidence of skeletal dysplasia. Genetic tests revealed a homozygous mutation in the TRPV4 gene (c.281C>T; p.S94L), leading to the diagnosis of congenital spinal muscular atrophy and arthrogryposis (CSMAA). Hence, this presents the first case of CSMAA caused by a TRPV4 mutation (p.S94L), with a different presentation from the one previously described in the literature, thus broadening the phenotypic variability and clinical spectrum of TRPV4 mutations.
Indexed as
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.