- Original Article
- Clinical characteristics of congenital myotonic dystrophy diagnosed by molecular genetic method
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Sook Hyun Nam, Young Bae Son, Bo Lyun Lee, Jeehun Lee, Chang-seok Ki, Munhyang Lee
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Clin Exp Pediatr. 2007;50(9):868-874. Published online September 15, 2007
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Purpose : We performed this study to investigate the perinatal and developmental features of the patients with congenital myotonic dystrophy (CDM) confirmed by the molecular genetic method and the clinical characteristics of their mother, and to identify the relation between the number of CTG repeats and the clinical severity.
Methods : A retrospective review of the medical records and the results... |
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