ロード中...
Compound Heterozygous COX20 Variants Impair the Function of Mitochondrial Complex IV to Cause a Syndrome Involving Ophthalmoplegia and Visual Failure
The cytochrome c oxidase 20 (COX20) gene encodes a protein with a crucial role in the assembly of mitochondrial complex IV (CIV). Mutations in this gene can result in ataxia and muscle hypotonia. However, ophthalmoplegia and visual failure associated with COX20 mutation have not been examined previo...
保存先:
| 主要な著者: | , , , , , , , , , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2022-05-01
|
| シリーズ: | Frontiers in Neurology |
| 主題: | |
| オンライン･アクセス: | https://www.frontiersin.org/articles/10.3389/fneur.2022.873943/full |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|