The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation

Seipinopathy is an autosomal dominant neurodegenerative disease caused by mutations of the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene. We report the first Japanese case of seipinopathy with a heterozygous mutation of p.N88S in the BSCL2 gene. The patient showed bilateral hyperreflexia...

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Detalles Bibliográficos
Autores principales: Minami, Kazushi, Takahashi, Shinichi, Nihei, Yoshihiro, Oki, Koichi, Suzuki, Shigeaki, Ito, Daisuke, Takashima, Hiroshi, Suzuki, Norihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849563/
https://www.ncbi.nlm.nih.gov/pubmed/29269637
http://dx.doi.org/10.2169/internalmedicine.8765-16

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