Article
"Shake hands"; diagnosing a floppy infant--myotonic dystrophy and the congenital subtype: a difficult perinatal diagnosis.
Journal of perinatal medicine - 1 Jan 2000
Verrijn Stuart A A, Huisman M, van Straaten H L, Bakker J C, Arabin B
Abstract excerpt
Myotonic dystrophy is a multi-organ disease inherited in a complicated way. Congenital myotonic dystrophy is a distinct entity with severe symptoms leading to a high rate of perinatal morbidity and mortality. The occurrence of congenital myotonic dystrophy often allows a subsequent diagnosis in the mother with important implications for her life, her further pregnancies and offspring. Genetic principles of...
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