@article{3a85f1df93a645e1b1f7f34ee87230bb,
title = "Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L",
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.",
author = "{Finding of Rare Disease Genes (FORGE) in Canada Consortium Steering Committee} and Grace Yoon and Zeenat Malam and Tara Paton and Marshall, {Christian R.} and Ella Hyatt and Zhenya Ivakine and Scherer, {Stephen W.} and Lee, {Kyong Soon} and Cynthia Hawkins and Cohn, {Ronald D.}",
note = "Funding Information: Funded by the Government of Canada through Genome Canada, the Canadian Institutes of Health Research , the Ontario Genomics Institute ( OGI-049 ), Genome Quebec, Genome British Columbia , and the McLaughlin Center . S.S. serves as a paid scientific advisory board member of Population Diagnostics and Younique Genomics; receives royalty fees from Lineagen and Athena; serves on the scientific advisory board of Autism Speaks; and receives funding from GlaxoSmithKline. The other authors declare no conflicts of interest. Publisher Copyright: {\textcopyright} 2016 Elsevier Inc.",
year = "2016",
month = apr,
day = "1",
doi = "10.1016/j.jpeds.2015.12.060",
language = "English (US)",
volume = "171",
pages = "313--316.e2",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
}