Article
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).
American journal of human genetics - 1 Nov 1993
Brunner H G, Brüggenwirth H T, Nillesen W, Jansen G, Hamel B C, Hoppe R L, de Die C E, Höweler C J, van Oost B A, Wieringa B
Abstract excerpt
In patients with myotonic dystrophy (DM), the severity of clinical signs is correlated with the length of a (CTG)n trinucleotide repeat sequence. This sequence tends to expand in subsequent generations. In order to examine the kinetics of this process and, in particular, the influence of the muta...
Topics
- Adult
- Alleles
- Female
- Heterozygote
- Humans
- Male
- Middle Aged
- Myotonic Dystrophy
- Parents
- Pedigree
- Phenotype
- Repetitive Sequences, Nucleic Acid
- Sex Characteristics