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.
Frontiers in Neurology（2022）
关键词
mitochondrial fission,DRP1,DNM1L,encephalopathy,EMPF1
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