Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal ...

Source: BMC Medical Genetics - March 31, 2020 Category: Genetics & Stem Cells Authors: Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige and Hideshi Kawakami Tags: Case report Source Type: research