Mitochondrial disorders are highly heterogeneous and can manifest as a spectrum of clinically heterogeneous disorders that affect multiple organ systems.Herein,we report a Chinese female patient carrying mitochondrial...Mitochondrial disorders are highly heterogeneous and can manifest as a spectrum of clinically heterogeneous disorders that affect multiple organ systems.Herein,we report a Chinese female patient carrying mitochondrial DNA m.3243A>G mutation who sequentially experienced myoclonic epilepsy with ragged red fibers,mitochondrial neurogastrointestinal encephalomyopathy,and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.This report expands the current understanding of phenotypic heterogeneity in mitochondrial disorders.展开更多
基金supported by funding from the Zhejiang Provincial Natural Science Foundation(No.LZ25H090005)the National Natural Science Foundation of China(No.82271282)the Zhejiang Provincial Medical Technology Program(No.2023RC215).
文摘Mitochondrial disorders are highly heterogeneous and can manifest as a spectrum of clinically heterogeneous disorders that affect multiple organ systems.Herein,we report a Chinese female patient carrying mitochondrial DNA m.3243A>G mutation who sequentially experienced myoclonic epilepsy with ragged red fibers,mitochondrial neurogastrointestinal encephalomyopathy,and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.This report expands the current understanding of phenotypic heterogeneity in mitochondrial disorders.
