Article
Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy.
American journal of medical genetics - 15 Jun 1991
Rapaport D, Passos-Bueno M R, Brandão L, Love D, Vainzof M, Zatz M
Abstract excerpt
A total of 162 Duchenne (DMD) patients and two girls with a DMD phenotype were analysed for deletions in the central region of the dystrophin gene in order to determine if there was a correlation between mental retardation (MR) and the pattern of deletion. Approximately 43% of the patients studied had deletions with two dystrophin cDNAs, cf23a and cf56a, and among 148 patients who were mentally assessed, 50% were...
Topics
- Chromosome Deletion
- DNA Probes
- Dystrophin
- Female
- Genetic Testing
- Humans
- Intellectual Disability
- Male
- Muscular Dystrophies
- Phenotype