Article
[Myotonic dystrophy type 1 in cataract patients: molecular diagnosis for screening and genetic counseling].
Arquivos brasileiros de oftalmologia - 1 Jan 2000
Rojas María Verónica Muñoz, Chimelli Leila Maria Cardão, Simões Aguinaldo Luiz
Abstract excerpt
PURPOSE: To detect MD1 premutation and full mutation carriers among cataract patients and offer familial genetic counseling. METHODS: We studied the DNA of 60 selected cataract patients through polymerase chain reaction analysis. This study was performed at the "Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto" where selected patients had been examined at the Cataract Outpatient Clinic from...
Topics
- Adult
- Cataract
- DNA Mutational Analysis
- Female
- Genetic Counseling
- Genetic Testing
- Humans
- Male
- Middle Aged
- Mutation
- Myotonic Dystrophy
- Polymerase Chain Reaction