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Review

Primary Mitochondrial Disorders Overview

Patrick F Chinnery  1
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.
[updated ].
Affiliations
Free Books & Documents
Review

Primary Mitochondrial Disorders Overview

Patrick F Chinnery.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of primary mitochondrial disorders.

  2. 2

    Provide evaluation strategies to identify the genetic cause of a primary mitochondrial disorder in a proband.

  3. 3

    Identify patient care guidelines for primary mitochondrial disorders.

  4. 4

    Inform genetic counseling of family members of an individual with a primary mitochondrial disorder.

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References

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    1. Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM. Risk of developing a mitochondrial DNA deletion disorder. Lancet. 2004;364:592–6. - PubMed
    1. Hellebrekers DM, Wolfe R, Hendrickx AT, de Coo IF, de Die CE, Geraedts JP, Chinnery PF, Smeets HJ. PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. Hum Reprod Update. 2012;18:341–9. - PubMed

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