Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

Finding of Rare Disease Genes (FORGE) in Canada Consortium Steering Committee

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)313-316.e2
JournalJournal of Pediatrics
Volume171
DOIs
StatePublished - Apr 1 2016

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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