Primary Mitochondrial Disorders Overview
- PMID: 20301403
- Bookshelf ID: NBK1224
Primary Mitochondrial Disorders Overview
Excerpt
The purpose of this overview is to:
- 1
Describe the clinical characteristics of primary mitochondrial disorders.
- 2
Provide evaluation strategies to identify the genetic cause of a primary mitochondrial disorder in a proband.
- 3
Identify patient care guidelines for primary mitochondrial disorders.
- 4
Inform genetic counseling of family members of an individual with a primary mitochondrial disorder.
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References
-
- Barragán-Campos HM, Vallee JN, Lo D, Barrera-Ramirez CF, Argote-Greene M, Sanchez-Guerrero J, Estanol B, Guillevin R, Chiras J. Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. Arch Neurol. 2005;62:737–42. - PubMed
-
- Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med. 2014;370:2418–25. - PubMed
-
- Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Dürr A, Fontaine B, Ballabio A. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell. 1998;93:973–83. - PubMed
-
- 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
-
- 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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