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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Detalles Bibliográficos
Autores principales: Nasca, Alessia, Legati, Andrea, Baruffini, Enrico, Nolli, Cecilia, Moroni, Isabella, Ardissone, Anna, Goffrini, Paola, Ghezzi, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108486/
https://www.ncbi.nlm.nih.gov/pubmed/27328748
http://dx.doi.org/10.1002/humu.23033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108486/
https://www.ncbi.nlm.nih.gov/pubmed/27328748
http://dx.doi.org/10.1002/humu.23033

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