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Article

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.

International journal of molecular sciences - 16 Jul 2024

Berti Beatrice, Verrigni Daniela, Nasca Alessia, Di Nottia Michela, Leone Daniela, Torraco Alessandra, Rizza Teresa, Bellacchio Emanuele, Legati Andrea, Palermo Concetta, Marchet Silvia, Lamperti Costanza, Novelli Antonio, Mercuri Eugenio Maria, Bertini Enrico Silvio, Pane Marika, Ghezzi Daniele, Carrozzo Rosalba

Abstract excerpt

Mitochondrial fission and fusion are vital dynamic processes for mitochondrial quality control and for the maintenance of cellular respiration; they also play an important role in the formation and maintenance of cells with high energy demand including cardiomyocytes and neurons. The DNM1L (dynamin-1 like) gene encodes for the DRP1 protein, an evolutionary conserved member of the dynamin family that is...

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PMID: 39063023
DOI: 10.3390/ijms25147782
PMCID: PMC11277250

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De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.PMID 39063023Read ↗

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