A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene

Spastic paraplegia type 4 (SPG4) is caused by mutations of the SPAST gene and is the most common form of autosomal-dominantly inherited pure hereditary spastic paraplegia (HSP). We herein report a Japanese patient with SPG4 with a confirmed de novo mutation of SPAST. On exome sequencing and Sanger s...

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Sparad:
Bibliografiska uppgifter
I publikationen:Intern Med
Huvudupphovsmän: Nan, Haitian, Okamoto, Kensho, Gao, Lihua, Morishima, Yuto, Ichinose, Yuta, Koh, Kishin, Hashiyada, Masaki, Adachi, Noboru, Takiyama, Yoshihisa
Materialtyp: Artigo
Språk:Inglês
Publicerad: The Japanese Society of Internal Medicine 2020
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7578612/
https://ncbi.nlm.nih.gov/pubmed/32522921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.4599-20
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