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Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

Human mutation - 1 Sept 2016

Nasca Alessia, Legati Andrea, Baruffini Enrico, Nolli Cecilia, Moroni Isabella, Ardissone Anna, Goffrini Paola, Ghezzi Daniele

Abstract excerpt

Mitochondria are highly dynamic organelles, undergoing continuous fission and fusion, and mitochondrial dynamics is important for several cellular functions. DNM1L is the most important mediator of mitochondrial fission, with a role also in peroxisome division. Few reports of patients with genetic defects in DNM1L have been published, most of them describing de novo dominant mutations. We identified compound...

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PMID: 27328748
DOI: 10.1002/humu.23033
PMCID: PMC5108486

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