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- W2000670147 abstract "Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder caused by expansion of a trinucleotide repeat in a non-coding region of DMPK. Prenatal diagnosis (PND) is available; however, the decision to terminate affected pregnancies is difficult as the extent of disability is hard to predict from the size of the expansion. In preimplantation genetic diagnosis (PGD) genetic analysis is carried out before the establishment of pregnancy. This paper reviews the largest number of cycles of PGD for DM1 in the UK indicating that PGD is a practical option for affected couples." @default.
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- W2000670147 date "2008-02-01" @default.
- W2000670147 modified "2023-10-14" @default.
- W2000670147 title "Preimplantation genetic diagnosis for myotonic dystrophy type 1 in the UK" @default.
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- W2000670147 doi "https://doi.org/10.1016/j.nmd.2007.10.002" @default.
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