Article
Molecular analysis of two pre-mutations in myotonic dystrophy.
Clinical genetics - 1 Oct 1998
Yamagata H, Kinoshita M, Komori T, Kondo I, Miki T
Abstract excerpt
Here we report two families with myotonic dystrophy (DM) in which the asymptomatic parent proved to be in a pre-mutation state. Polymerase chain reaction (PCR) analysis of the region spanning the CTG expansion demonstrated that one father of the proband possessed (CTG)n repeats of n = 12 and 44 c...
Topics
- Adult
- Aged
- Child, Preschool
- DNA
- Family
- Female
- Genotype
- Haplotypes
- Humans
- Male
- Middle Aged
- Mutation
- Myotonic Dystrophy
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Sequence Analysis, DNA
- Trinucleotide Repeat Expansion