线粒体DNA
突变
遗传学
生物
基因
分子生物学
作者
Suzanne C.E.H. Sallevelt,J. Dreesen,Marion Drüsedau,Debby M.E.I. Hellebrekers,Aimée Paulussen,Edith Coonen,Ronald J.T. van Golde,Joep Geraedts,Luca Gianaroli,Maria Cristina Magli,Massimo Zeviani,Hubert J.M. Smeets,Christine de Die‐Smulders
标识
DOI:10.1093/humrep/dew356
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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