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CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76.

Jesus Eduardo Garcia-BerlangaMariana MoscovichIsaac Jair PalaciosAlejandro Banegas-LagosAugusto Rojas-MartinezDaniel Martinez-Ramirez
Published in: Case reports in neurological medicine (2019)
Clinicians should screen for CAPN1 mutation in a young female patient without significant family history with a spastic paraplegia syndrome associated with other symptoms.
Keyphrases
  • cerebral palsy
  • case report
  • botulinum toxin
  • upper limb
  • copy number
  • high throughput
  • palliative care
  • middle aged
  • sleep quality
  • gene expression
  • dna methylation
  • physical activity
  • genome wide
  • depressive symptoms