ArticleNeurology. Genetics2025
Atypical Presentation of an
Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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
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.
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: The aim of this study was to characterize the clinical, genetic, and radiologic presentation of a patient with Methods: A patient who presented with muscle stiffness and constipation underwent comprehensive clinical and imaging evaluations, followed by next-generation whole-genome sequencing and optical genome mapping. In the subsequent year, the proband reported additional symptoms of muscle spasms, difficulty of relaxation of the anal sphincter, and stiffness in movements. Results: MRI of the brain demonstrated mild diffuse white matter hyperintensities bilaterally. Analysis of optical genome mapping data revealed a 275.54-kb tandem duplication at 5q23.2 [NC_000005.10:g.126637655_126913191dup] comprising 4 genes including the Discussion: We identified a 69-year-old patient with an
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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.