期刊
NEUROMUSCULAR DISORDERS
卷 18, 期 2, 页码 131-136出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2007.10.002
关键词
myotonic dystrophy type 1 (DM1); preimplantation genetic diagnosis (PGD)
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 term inate 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. (C) 2007 Elsevier B.V. All rights reserved.
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