Article
(CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients.
Biochemical medicine and metabolic biology - 1 Aug 1993
Novelli G, Gennarelli M, Menegazzo E, Mostacciuolo M L, Pizzuti A, Fattorini C, Tessarolo D, Tomelleri G, Giacanelli M, Danieli G A
Abstract excerpt
A genotype-phenotype study based on the primary clinical features of adult myotonic dystrophy (DM) included 116 patients from 62 Italian pedigrees. A significant correlation between clinical severity and the number of repeats at the 3' untranslated region of the myotonin-protein kinase gene (MT-P...
Topics
- Adolescent
- Adult
- Alleles
- Base Sequence
- Child
- DNA
- Female
- Gene Amplification
- Humans
- Italy
- Male
- Middle Aged
- Molecular Sequence Data
- Muscle Proteins
- Mutation
- Myotonic Dystrophy
- Myotonin-Protein Kinase
- Phenotype