A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging

Lignende værker

• Ataxia with ocular apraxia type 2 not responding to 4-aminopyridine: A rare mutation in the SETX gene in a Saudi patient
  af: Algahtani, Hussein, et al.
  Udgivet: (2018)
• A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine
  af: Algahtani, Hussein, et al.
  Udgivet: (2019)
• A Novel Intronic Variant in SLC2A1 Gene in a Saudi Patient with Myoclonic Epilepsy
  af: Algahtani, Hussein, et al.
  Udgivet: (2020)
• Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family
  af: Algahtani, Hussein, et al.
  Udgivet: (2019)
• A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9
  af: Algahtani, Hussein, et al.
  Udgivet: (2020)