| Literature DB >> 14557581 |
R H Walker1, A Rasmussen, D Rudnicki, S E Holmes, E Alonso, T Matsuura, T Ashizawa, B Davidoff-Feldman, R L Margolis.
Abstract
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). One of six previously identified patients with HDL2 had acanthocytosis on peripheral blood smear, suggesting that HDL2 should be considered in the differential of chorea-acanthocytosis.Entities:
Mesh：
Substances：
Year: 2003 PMID： 14557581 DOI： 10.1212/01.wnl.0000085866.68470.6d
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910