Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
J Pediatr. 2016 Apr;171:313-6.e1-2. doi: 10.1016/j.jpeds.2015.12.060. Epub 2016 Jan 26.
We describe two infants with hypotonia, absent respiratory effort, and giant mitochondria in neurons due to compound heterozygosity for 2 nonsense mutations of DNM1L. DNM1L has a critical role in regulating mitochondrial morphology and function. This observation confirms the central role of mitochondrial fission to normal human development.
我们描述了两名婴儿，他们因 DNM1L 的 2 个无义突变的复合杂合性而出现肌张力减退、无呼吸努力和神经元中大线粒体。DNM1L 在调节线粒体形态和功能方面起着关键作用。这一观察结果证实了线粒体分裂对正常人类发育的核心作用。
