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.
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