Article
Clinical application of preimplantation diagnosis for myotonic dystrophy.
Prenatal diagnosis - 1 Oct 1997
Sermon K, Lissens W, Joris H, Seneca S, Desmyttere S, Devroey P, Van Steirteghem A, Liebaers I
Abstract excerpt
Myotonic dystrophy (DM) or Steinert's disease is a progressive autosomal dominant disease characterized by increasing muscle weakness, myotonia, cataracts, and endocrine abnormalities such as diabetes and testicular atrophy. The gene for DM was cloned in 1992 and the mutation was shown to be an expanded trinucleotide (CTG) repeat. A polymerase chain reaction (PCR)-based assay was described soon after that would...
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