Huntington's disease--like 2 in South Africa.
نویسندگان
چکیده
To the Editor: Huntington’s disease (HD) is a late onset, autosomal dominant neurodegenerative disorder characterised by progressive movement impairment, affective disturbance and cognitive dysfunction. In 2001, Huntington’s disease-like 2 (HDL2) was identified.1 The causative factor in both disorders is due to a repeat expansion mutation but these occur in two distinct genes: the IT15 gene (chromosome 4p16.3) for HD and the JPH3 gene (chromosome 16q24.3) for HDL2.
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ورودعنوان ژورنال:
- South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
دوره 98 3 شماره
صفحات -
تاریخ انتشار 2008