Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration

Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration

Mitochondrial Fission Factor (MFF) is part of a protein complex that promotes mitochondria and peroxisome fission. Hitherto, only 5 patients have been reported harboring mutations in MFF, all of them with the clinical features of a very early onset Leigh-like encephalopathy. We report on an 11-year-...

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Bibliographic Details
Main Authors: Alessia Nasca, Francesca Nardecchia, Anna Commone, Michela Semeraro, Andrea Legati, Barbara Garavaglia, Daniele Ghezzi, Vincenzo Leuzzi
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-12-01
Series:Frontiers in Genetics
Subjects:
mitochondrial fission factor
MFF
epileptic encephalopathy
leigh syndrome
mitochondrial disorders
mitochondria
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00625/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2018.00625/full

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