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Preimplantation genetic diagnosis for myotonic dystrophy type 1 in the UK

✍ Scribed by 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


Book ID
116793343
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
321 KB
Volume
18
Category
Article
ISSN
0960-8966

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## Abstract Myotonic dystrophy type 1 (DM1) has been identified as the amplification of a polymorphic (CTG)n repeat in the 3β€² untranslated region of a gene encoding a serine/threonine kinase (DMPK). The length of the CTG repeat correlates with clinical severity and the age at onset of the disease.