Mitochondrial DNA Maintenance Defects Overview

Excerpt

This overview focuses on the clinical features and molecular genetics of mitochondrial DNA (mtDNA) maintenance defects.

The goals of this overview are the following.

Goal 1: Describe the pathomechanism of mtDNA maintenance defects.

Goal 2: Review the genetic causes of mtDNA maintenance defects.

Goal 3: Describe the clinical characteristics of mtDNA maintenance defects.

Goal 4: Provide clinical and laboratory evaluation strategies to facilitate the diagnosis of a mtDNA maintenance defect and to establish a genetic cause in a proband (when possible).

Goal 5: Inform genetic counseling for mtDNA maintenance defects.

Goal 6: Summarize current management recommendations for individuals with mtDNA maintenance defects.