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As described in Chapter One the mutation responsible for causing Myotonic Dystrophy is an expanded block of CTG repeats in the DMPK gene on chromosome 19.
The severity of the disease corresponds to the number of repeats in the gene. The process of anticipation where the disease increases in severity with each generation, is based on the varying number of repeats found in the different individuals in the family.
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Why does the disease increase in severity with successive generations of a family? >
Introduction |
