Genotype-Phenotype Correlation of Maternally Inherited Disorders due to Mutations in Mitochondrial DNA

Taiwanese Journal of Obstetrics & Gynecology

Woei-Cherng Shyu¹  Peterus Thajeb²  Ming-Fu Chiang³  Daofu Dai⁴ 

[1] Department of Neurology, Neuromedical Scientific Center, Tzu-Chi University, Hualien, Taiwan;Department of Neurology, Taipei, Taiwan;Department of Neurosurgery, Taipei, Taiwan;Department of Pathology, School of Medicine, University of Washington, Seattle, USA;

关键词: encephalopathy;    epilepsy;    mitochondrial disease;    mitochondrial DNA;    mutation;    myopathy;    oxidative phosphorylation;    OXPHOS disease;   

DOI  :  10.1016/S1028-4559(09)60225-4

来源: DOAJ

【 摘 要 】

Mitochondrial disorders are heterogeneous systemic ailments that are most often caused by maternal inheritance of a variety of mutations of the mitochondrial (mt) DNA. Paternal inheritance and somatic mutation are rare. The disorders are well recognized not only for the genotypic heterogeneity, but also the phenotypic variation among the affected members of a single family. The genotype-phenotype correlation of the diversity of the syndromic and non-syndromic features of mitochondrial disorders are discussed. Some aspects of the molecular mechanisms of this heterogeneity, and the histopathologic findings are highlighted.

【 授权许可】

Unknown