ArticleJournal of musculoskeletal & neuronal interactions2020
A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report.
Article in Journal of musculoskeletal & neuronal interactions, 2020. 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
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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
3 citing papers in PubMed, 3 citations in OpenAlex.
- An integrative neurogenomics workflow for precision medicine in neurodegenerative disorders.Frontiers in dementia · 2026Article
- Macrothrombocytopenia with leukocyte inclusions in a patient with Wilson disease: a case report and literature review.BMC medical genomics · 2024Review
- A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants inGenes · 2022Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson's disease (WD) is an autosomal recessive genetic disease linked to ATP7B, which is located on the chromosome 13q14.3. We presently report a hepatolenticular degeneration carrier whose clinical phenotype mainly included limb weakness and tremor with a novel WD mutation. The mutation in Exon 10 of ATP7B Gene [c.2480G>A p. (Arg827Gln)] was identified after gene sequencing. We have provided diagnostic analyses, such as muscle biopsy and electrophysiology, which would be helpful to deepen the understanding of the pathogenesis underneath nerve damage in WD heterozygote carriers (Hzc).
Indexed as
Identifiers
33265091PMC7716679W3108169676What OpenQuestion holds
Registered trials
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