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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2016
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| Materias: | |
| 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 |