1.
J Pediatr
; 171: 313-6.e1-2, 2016 Apr.
Article
de Anglais
| MEDLINE
| ID: mdl-26825290
RÉSUMÉ
We describe two infants with hypotonia, absent respiratory effort, and giant mitochondria in neurons due to compound heterozygosity for 2 nonsense mutations of DNM1L. DNM1L has a critical role in regulating mitochondrial morphology and function. This observation confirms the central role of mitochondrial fission to normal human development.