Genotype-phenotype correlation of maternally inherited disorders due to mutations in mitochondrial DNA.

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Disease Progression
• Share to Epilepsies, Myoclonic