Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

• Main Authors: Salma M. Wakil (Author), Safa Alhissi (Author), Haya Al Dossari (Author), Ayesha Alqahtani (Author), Sherin Shibin (Author), Brahim T. Melaiki (Author), Josef Finsterer (Author), Amal Al-Hashem (Author), Saeed Bohlega (Author), Anas M. Alazami (Author)
• Format: Book
• Published: BMC, 2019-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegia (HSP). Case presentation We sought to expand the HSP phenotype ass...