Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3080866 | Neuromuscular Disorders | 2008 | 6 Pages |
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.
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Authors
Georgia Kakourou, Seema Dhanjal, Thalia Mamas, Sarah Gotts, Alpesh Doshi, Karen Fordham, Paul Serhal, Domenico M. Ranieri, Joy D.A. Delhanty, Joyce C. Harper, Sioban B. SenGupta,