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What causes congenital myotonic dystrophy?

Congenital myotonic dystrophy is caused by the abnormal enlargement of a particular gene that affects a protein in muscle cells. The mutation is passed on from parents to children, usually through the mother. This genetic mutation leads to muscle weakness and lack of muscle tone that are usually symptoms of the disease. Researchers are still working to understand how this specific mutation leads to symptoms in early childhood.

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