PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.

Suzanne C E H Sallevelt,Joseph C F M Dreesen,Marion Drüsedau,Debby M E I Hellebrekers,Aimee D C Paulussen,Edith Coonen,Ronald J T van Golde, Joep P M Geraedts,Luca Gianaroli,Maria C Magli,Massimo Zeviani,Hubert J M Smeets,Christine E M de Die-Smulders

HUMAN REPRODUCTION（2017）

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摘要

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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关键词

PGD,mitochondrial DNA (mtDNA) mutation,T14487C,MT-ND6,Leigh syndrome

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