A 26-year-old primigravida woman came to the clinic for prenatal care at 12 weeks of pregnancy. History and examination were remarkable only for mild weakness of the muscles of facial expression and myotonia in the hand muscles. An electromyogram showed electrical myotonia in right abductor digiti quinti, brachioradialis, and interosseal muscles. Genetic study confirmed the diagnosis of myotonic dystrophy showing more than 50 CTG repeats in the 19q 13.3 locus. Genetic amniocentesis otherwise ruled out the infant to have congenital myotonic dystrophy.
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Accepted: June 10, 2000
© 2001 Elsevier Science Ireland Ltd. Published by Elsevier Inc. All rights reserved.