Article
Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success.
Journal of medical genetics - 1 Feb 2013
Sallevelt Suzanne C E H, Dreesen Joseph C F M, Drüsedau Marion, Spierts Sabine, Coonen Edith, van Tienen Florence H J, van Golde Ronald J T, de Coo Irineus F M, Geraedts Joep P M, de Die-Smulders Christine E M, Smeets Hubert J M
Abstract excerpt
BACKGROUND: Mitochondrial or oxidative phosphorylation diseases are relatively frequent, multisystem disorders; in about 15% of cases they are caused by maternally inherited mitochondrial DNA (mtDNA) mutations. Because of the possible severity of the phenotype, the lack of effective treatment, and the high recurrence risk for offspring of carrier females, couples wish to prevent the transmission of these mtDNA...
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