[Clinical characteristics and genetic mutation analysis in a Hui family with Huntington disease].

Abstract excerpt

OBJECTIVE: To perform clinical analysis and gene diagnosis of Huntington disease (HD) in a Hui pedigree from Xinjiang. METHODS: The IT15 gene mutation of the Hui family was analyzed by touchdown PCR, molecular cloning and gene sequencing. RESULTS: The proband carried 46 CAG repeats. Pain in bilateral lower limb was the first symptom, followed by symptoms such as dance like involuntary movements, mood disorders,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Asian People
• Share to China