Features of Myotonic dystrophy type 1 gene
What are the characteristics of the Myotonic dystrophy type 1 gene?
The mutation in DM1 is an expansion of a trinucleotide (CTG) repeat in the protein kinase gene on the long arm of chromosome 19.
The size of the expanded repeat correlates with severity and age of onset of symptoms and generally increases in successive generations within a family, providing a molecular basis for the clinical observed phenomenon known as anticipation (progressively earlier onset of the disease in successive generations).
