Article
Clinical features, DYT1 mutation screening and genotype-phenotype correlation in patients with dystonia from Iran.
Medical principles and practice : international journal of the Kuwait University, Health Science Centre - 1 Jan 2012
Akbari Mohammad Taghi, Zand Zahra, Shahidi Gholam Ali, Hamid Mohammad
Abstract excerpt
OBJECTIVE: To test Iranian patients with primary torsion dystonia to determine the frequency of 904-906 del GAG mutation in the DYT1 (TOR1A) gene and to investigate the genotype-phenotype association for this disease. SUBJECTS AND METHODS: Sixty-three patients with primary dystonia were investigated. DNA was extracted from peripheral blood and these samples were subjected to PCR-sequencing for exon 5 of the DYT1...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
