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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Detalles Bibliográficos
Autores principales: Nasca, Alessia, Nardecchia, Francesca, Commone, Anna, Semeraro, Michela, Legati, Andrea, Garavaglia, Barbara, Ghezzi, Daniele, Leuzzi, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292958/
https://www.ncbi.nlm.nih.gov/pubmed/30581454
http://dx.doi.org/10.3389/fgene.2018.00625

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292958/
https://www.ncbi.nlm.nih.gov/pubmed/30581454
http://dx.doi.org/10.3389/fgene.2018.00625

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