IVD Test Reagent/Kits, Molecular Assay, Gene Disorder, Trinucleotide Repeats, CTG, DMPK Gene
Definition : Molecular assay reagents intended to identify CTG repeats in the dystrophia myotonica-protein kinase (DMPK) gene, located at chromosome 19q13.3 Normal alleles have from 5 to 35 CTG trinucleotide repeats. A variation from the expected number of normal CTG trinucleotide repeat copies may produce altered DNA and improper gene functioning, resulting in full mutation. Alleles with from 50 to 5000 CTG trinucleotide repeats have been associated with dystrophia myotonica type 1 (DM1 Steinert's disease)
Entry Terms : "Steinert's Disease Gene Mutation Reagents" , "Dystrophia Myotonica Type 1 (DM1) Gene Mutation Reagents" , "Dystrophy Gene Mutation Reagents" , "Reagents, Molecular Assay, Gene Disorder, Trinucleotide Repeats, CTG, DMPK Gene"
UMDC code : 25038