A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia

Lignende værker

• A Novel Nonsense Mutation in Leucine-Rich, Glioma-Inactivated-1 Gene as the Underlying Cause of Familial Temporal Lobe Epilepsy
  af: Kanwal, Sumaira, et al.
  Udgivet: (2018)
• Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
  af: Kim, Hyeon Jin, et al.
  Udgivet: (2013)
• Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease
  af: Kanwal, Sumaira, et al.
  Udgivet: (2021)
• A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome
  af: Bassuk, Alexander G., et al.
  Udgivet: (2008)
• Dystonia in a Patient with Autosomal‐Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
  af: Rossi, Malco, et al.
  Udgivet: (2016)