| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 4164577 | The Journal of Pediatrics | 2016 | 6 Pages |
Abstract
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.
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Authors
Grace MD, Zeenat PhD, Tara PhD, Christian R. PhD, Ella BSc, Zhenya PhD, Stephen W. PhD, Kyong-Soon MD, Cynthia MD, PhD, Ronald D. MD,