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

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 d...

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Bibliographische Detailangaben
Veröffentlicht in:Hum Mutat
Hauptverfasser: Nasca, Alessia, Legati, Andrea, Baruffini, Enrico, Nolli, Cecilia, Moroni, Isabella, Ardissone, Anna, Goffrini, Paola, Ghezzi, Daniele
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2016
Schlagworte:
Brief Reports
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5108486/
https://ncbi.nlm.nih.gov/pubmed/27328748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23033
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