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Article

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.

The Journal of pediatrics - 1 Apr 2016

Yoon Grace, Malam Zeenat, Paton Tara, Marshall Christian R, Hyatt Ella, Ivakine Zhenya, Scherer Stephen W, Lee Kyong-Soon, Hawkins Cynthia, Cohn Ronald D

Abstract excerpt

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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Identifiers

PMID: 26825290
DOI: 10.1016/j.jpeds.2015.12.060

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