Article
PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.
Human reproduction (Oxford, England) - 1 Mar 2017
Sallevelt Suzanne C E H, Dreesen Joseph C F M, Drüsedau Marion, Hellebrekers Debby M E I, Paulussen Aimee D C, Coonen Edith, van Golde Ronald J T, Geraedts Joep P M, Gianaroli Luca, Magli Maria C, Zeviani Massimo, Smeets Hubert J M, de Die-Smulders Christine E M
Abstract excerpt
We report on the first PGD performed for the m.14487 T>C mitochondrial DNA (mtDNA) mutation in the MT-ND6 gene, associated with Leigh syndrome. The female carrier gave birth to a healthy baby boy at age 42. This case adds to the successes of PGD for mtDNA mutations.
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