A new family with spastic paraplegia type 51 and novel mutations in AP4E1

• Main Authors: Izabela Winkler (Author), Paweł Miotła (Author), Monika Lejman (Author), Aleksandra Pietrzyk (Author), Magdalena Kacprzak (Author), Marcin Kubiak (Author), Agnieszka Sobczyńska-Tomaszewska (Author), Maciej Skrzypczak (Author), Ilona Jaszczuk (Author)
• Format: Book
• Published: BMC, 2021-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Autosomal recessive mutations in the AP-4 (adaptor protein complex 4) complex subunit ϵ − 1 (AP-4E1) gene on chromosome 15q21.2 are known to cause spastic paraplegia 51 (SPG51). The exact phenotype of SPG51 remains poorly characterized, because only a few families have been repor...