Article
De novo myotonic dystrophy mutation in a Nigerian kindred.
American journal of human genetics - 1 May 1995
Krahe R, Eckhart M, Ogunniyi A O, Osuntokun B O, Siciliano M J, Ashizawa T
Abstract excerpt
An expansion of an unstable (CTG)n trinucleotide repeat in the 3' UTR of a gene encoding a putative serine/threonine protein kinase (DMPK) on human chromosome 19q13.3 has been shown to be specific for the myotonic dystrophy (DM) disease phenotype. In addition, a single haplotype composed of nine...
Topics
- Adult
- Aged
- Base Sequence
- Black People
- Blotting, Southern
- Female
- Haplotypes
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Myotonic Dystrophy
- Myotonin-Protein Kinase
- Nigeria
- Pedigree
- Polymorphism, Restriction Fragment Length
- Protein Serine-Threonine Kinases
- Repetitive Sequences, Nucleic Acid