Article
The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation.
Internal medicine (Tokyo, Japan) - 15 Feb 2018
Minami Kazushi, Takahashi Shinichi, Nihei Yoshihiro, Oki Koichi, Suzuki Shigeaki, Ito Daisuke, Takashima Hiroshi, Suzuki Norihiro
Abstract excerpt
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 of the biceps, triceps, brachioradialis, and knee, as well as the pes cavus and distal dominant weakness and...
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