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abstractpubmed· Abstract 2016· item PMID:26825290
Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L. 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.