Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings

oleh: Rie Saito, Norikazu Hara, Mari Tada, Yoshiaki Honma, Akinori Miyashita, Osamu Onodera, Takeshi Ikeuchi, Akiyoshi Kakita

Format: Article
Diterbitkan: BMC 2020-08-01

Deskripsi

Subjek

CHP1; NHE1; Autosomal recessive cerebellar ataxia; Middle-aged onset; Neuropathology