Literature DB >> 26825290

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.

Grace Yoon1, Zeenat Malam2, Tara Paton3, Christian R Marshall3, Ella Hyatt2, Zhenya Ivakine2, Stephen W Scherer3, Kyong-Soon Lee4, Cynthia Hawkins5, Ronald D Cohn6.   

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.
Copyright © 2016 Elsevier Inc. All rights reserved.

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Year:  2016        PMID： 26825290     DOI： 10.1016/j.jpeds.2015.12.060

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  29 in total

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