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Review

Mitochondrial DNA Maintenance Defects Overview

Ayman W El-Hattab  1 , William J Craigen  2 , Lee-Jun C Wong  2 , Fernando Scaglia  2
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
.
Affiliations
Free Books & Documents
Review

Mitochondrial DNA Maintenance Defects Overview

Ayman W El-Hattab et al.
Free Books & Documents

Excerpt

This purpose of this overview is to:

  1. 1

    Describe the pathomechanism of mitochondrial DNA (mtDNA) maintenance defects;

  2. 2

    Review the genetic causes of mtDNA maintenance defects;

  3. 3

    Describe the clinical characteristics of mtDNA maintenance defects;

  4. 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);

  5. 5

    Summarize current management recommendations for individuals with mtDNA maintenance defects;

  6. 6

    Inform genetic counseling for mtDNA maintenance defects.

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References

    1. El-Hattab, AW, Craigen WJ, Scaglia F. Mitochondrial DNA maintenance defects. Biochim Biophys Acta Mol Basis Dis. 2017;1863:1539-55. - PubMed
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