Title : Huntington's disease--like 2 can present as chorea-acanthocytosis.

Pub. Date : 2003 Oct 14

PMID : 14557581






1 Functional Relationships(s)
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Compound Name
Protein Name
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1 Three patients from a previously described family with autosomal dominant chorea-acanthocytosis were found to have the CTG trinucleotide repeat expansion mutation of the junctophilin-3 gene associated with Huntington"s disease-like 2 (HDL2). ctg junctophilin 3 Homo sapiens