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Paper Details

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Hum Mutat
33
2019
DNM1L, DNM1L (dynamin-1 like) gene, DNM1L variants, DNM1L-related mitochondrial epileptic encephalopathy, DRP1, DRP1 impairment, DRP1 protein, dominant DNM1L variants, dynamin family, dynamin-1 like, epileptic encephalopathy, muscle tissue, mutant fibroblasts, neurological disorders, patients, peroxisomes, yeast
Author NameAffiliation
Isabella MoroniFondazione IRCCS Istituto Neurologico Carlo Besta
Enrico BertiniBambino Gesu Children's Hospital, IRCCS
Enrico BertiniBambino Gesu Children's Hospital, IRCCS
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Release 1.2