De novo VPS16 missense variant causes infantile-onset dystonia with defective autophagic flux.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 42378062.
- Also identified by DOI 10.1172/jci.insight.207998.
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Abstract
A VPS16 gene variant causes movement disorder in an infant by blocking cellular waste clearance - confirmed in patient cells and potentially treatable with deep brain stimulation.
Medical subject headings
- Autophagy
- Mutation, Missense
- Vesicular Transport Proteins
- Dystonic Disorders