A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review
Zhenkun Zhang,
Xiaofan Bie,
Zhehui Chen
et al.
Abstract:Background
Mitochondrial diseases are heterogeneous in terms of clinical manifestations and genetic characteristics. The dynamin 1-like gene (DNM1L) encodes dynamin-related protein 1 (DRP1), a member of the GTPases dynamin superfamily responsible for mitochondrial and peroxisomal fission. DNM1L variants can lead to mitochondrial fission dysfunction.
Case presentation
Herein, we report a distinctive clinical phenotype associated with a novel variant… Show more
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