Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions
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DOI: 10.1002/ana.26544
Abstract: Infantile striatonigral degeneration is caused by a homozygous variant of the nuclear‐pore complex (NPC) gene NUP62, involved in nucleo‐cytoplasmic trafficking. By querying sequencing‐datasets of patients with dystonia and/or Leigh(‐like) syndromes, we identified 3 unrelated individuals… read more here.
Keywords: recessive nup54; nup54 variants; onset dystonia; early onset ... See more keywords