IPUS1

Jun-Hui Yuan1, Yujiro Higuchi2, Masahiro Ando2

  • 1Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan. jhyuans@gmail.com.

Journal of human genetics
|December 8, 2025
PubMed
概括

肌肉病,乳酸和 sideroblastic 贫血 1 型 (MLASA1) 是一种罕见的线粒体疾病,由 PUS1 基因变异引起. 在PUS1中发现了一种新的缺失,影响了线粒体蛋白质合成和呼吸链复合物I功能.

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