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

@inproceedings{Nasca2016BiallelicMI,
  title={Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy},
  author={Alessia Nasca and Andrea Legati and Enrico Baruffini and Cecilia Nolli and Isabella Moroni and Anna Ardissone and Paola Goffrini and Daniele Ghezzi},
  booktitle={Human mutation},
  year={2016}
}
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 defects in DNM1L have been published, most of them describing de novo dominant mutations. We identified compound heterozygous DNM1L variants in two brothers presenting with an infantile slowly… CONTINUE READING