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

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

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...

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Bibliographic Details
Main Authors: Izabela Winkler, Paweł Miotła, Monika Lejman, Aleksandra Pietrzyk, Magdalena Kacprzak, Marcin Kubiak, Agnieszka Sobczyńska-Tomaszewska, Maciej Skrzypczak, Ilona Jaszczuk
Format: Article
Language:English
Published: BMC 2021-05-01
Series:BMC Medical Genomics
Subjects:
Genetic disorders
AP4E1
Spastic paraplegia
Neurological disorders
Next-generation sequencing
Psychomotor retardation
Online Access:https://doi.org/10.1186/s12920-021-00980-5

Internet

https://doi.org/10.1186/s12920-021-00980-5

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