DMPK : DM1 protein kinase
Description
The DMPK gene, located on chromosome 19, holds the blueprint for a protein vital for normal muscle function. Mutations in this gene, particularly expansions of a trinucleotide repeat (CTG), lead to the development of myotonic dystrophy (DM), a complex inherited disorder characterized by muscle weakness, fatigue, and other systemic complications. Understanding the DMPK gene and its role in DM is crucial for developing effective therapies and improving the lives of individuals affected by this debilitating disease.
Associated Diseases
Did you know?
The size of the CTG repeat expansion in the DMPK gene correlates with the severity of DM1 symptoms. Larger expansions are associated with earlier onset and more severe disease.
