Novel APTX Mutation in a Hispanic Subject Affected by Ataxia with Oculomotor Apraxia Type 1

Eitemau Tebyg

• Expanding the ataxia with oculomotor apraxia type 4 phenotype
  gan: Paucar, Martin, et al.
  Cyhoeddwyd: (2016)
• A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1
  gan: Manzoor, Humera, et al.
  Cyhoeddwyd: (2017)
• Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
  gan: van Minkelen, Rick, et al.
  Cyhoeddwyd: (2015)
• Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia
  gan: Inlora, Jingga, et al.
  Cyhoeddwyd: (2017)
• Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4
  gan: Bras, Jose, et al.
  Cyhoeddwyd: (2015)