De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review

Martina Magistrati,Luisa Zupin,Eleonora Lamantea,Enrico Baruffini,Daniele Ghezzi,Andrea Legati,Fulvio Celsi,Flora Maria Murru,Valeria Capaci, Maurizio Pinamonti, Rossana Bussani,Marco Carrozzi,Cristina Dallabona,Massimo Zeviani, Maria Teresa Bonati

International journal of molecular sciences（2025）

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lethal encephalocardiomyopathy,refractory status epilepticus (RSE),burst suppression,global developmental regression,hypertrophic cardiomyopathy (HC),retrospective post-mortem diagnosis

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