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

• Main Authors: Kodai Kume (Author), Hiroyuki Morino (Author), Ryosuke Miyamoto (Author), Yukiko Matsuda (Author), Ryosuke Ohsawa (Author), Yuhei Kanaya (Author), Yui Tada (Author), Takashi Kurashige (Author), Hideshi Kawakami (Author)
• 格式: 图书
• 出版: BMC, 2020-03-01T00:00:00Z.
• 主题: article
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Abstract Background 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 dominant 3, while the recessive variants cause mitochondrial DNA dep...