Charlène Lhuissier Bart E Wagner Amy Vincent Gaëtan Garraux Olivier Hougrand Rudy Van Coster Valerie Benoit Deniz Karadurmus Guy Lenaers Naïg Gueguen Arnaud Chevrollier Isabelle Maystadt
10.3389/fneur.2022.937885
Front Neurol
2022 Sep 23;13:937885.
dnm1l drp1 empf1 encephalopathy mitochondrial fission
CC BY
https://pubmed.ncbi.nlm.nih.gov/36212643/
Case Reports
PMC9538651
36212643
Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant
2022