VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia

VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia

Abstract Background Alterations of vacuolar protein sorting‐associated protein 13 (VPS13) family members including VPS13A, VPS13B, and VPS13C lead to chorea acanthocytosis, Cohen syndrome, and parkinsonism, respectively. Recently, VPS13D mutations were identified as a cause of VPS13D‐related movemen...

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Bibliographic Details
Main Authors: Kishin Koh, Hiroyuki Ishiura, Haruo Shimazaki, Michiko Tsutsumiuchi, Yuta Ichinose, Haitian Nan, Shun Hamada, Toshihisa Ohtsuka, Shoji Tsuji, Yoshihisa Takiyama
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
autosomal recessive hereditary spastic paraplegia
complicated form
pure form
VPS13D‐related disorders
Online Access:https://doi.org/10.1002/mgg3.1108

Internet

https://doi.org/10.1002/mgg3.1108

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