Article
CTG repeat number in the nonaffected allele of myotonic dystrophy patients is not critical for disease expression.
Human biology - 1 Dec 1997
Cipollaro M, Galderisi U, Iacomino G, Galano G, Di Bernardo G, Lus G, Cotrufo R, Orsini A, Santoro L, Pastore L, Sarrantonio C, Salvatore F, Cascino A
Abstract excerpt
To investigate whether unusual allele segregation might explain the dominant negative effect of the expanded allele for myotonic dystrophy on myotonin protein kinase mRNA metabolism, which is suggested to cause the disease, we determined the number of CTG repeats at the DM locus in the nonaffecte...
Topics
- Alleles
- Gene Frequency
- Humans
- Myotonic Dystrophy
- Myotonin-Protein Kinase
- Protein Kinases
- Protein Serine-Threonine Kinases
- RNA, Messenger
- Trinucleotide Repeat Expansion