A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia

Lignende værker

• Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review
  af: Peng, Fang, et al.
  Udgivet: (2019)
• CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76
  af: Garcia-Berlanga, Jesus Eduardo, et al.
  Udgivet: (2019)
• Pure hereditary spastic paraplegia.
  af: Reid, E
  Udgivet: (1997)
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
  af: Wiessner, Manuela, et al.
  Udgivet: (2021)
• A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family
  af: Cotti Piccinelli, Stefano, et al.
  Udgivet: (2019)