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

著者 Koh K , Ishiura H , Shimazaki H , Tsutsumiuchi M , Ichinose Y , Nan H , Hamada S , Ohtsuka T , Tsuji S , Takiyama Y
Mol Genet Genomic Med.2019 Dec 26 ; ():e1108.
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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 movement disorders, which show several phenotypes including chorea, dystonia, spastic ataxia, and spastic paraplegia.
PMID: 31876103 [PubMed - as supplied by publisher]
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