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在GTPBP3中的双变异:新患者,表型谱和结果

Francesca Nardecchia1, Rosalba Carrozzo2, Alice Innocenti1

  • 1Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.

Annals of clinical and translational neurology
|February 8, 2024
PubMed
概括

在GTPBP3的遗传变异导致COXPD23,一种罕见的线粒体疾病. 这项研究详细介绍了两个具有轻度表型的兄弟姐妹,突出了疾病呈现的家族内变异性.

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