doi: 10.1212/01.wnl.0000085866.68470.6d.
Huntington's disease--like 2 can present as chorea-acanthocytosis
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- PMID: 14557581
- DOI: 10.1212/01.wnl.0000085866.68470.6d
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Huntington's disease--like 2 can present as chorea-acanthocytosis
Neurology.
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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.
Comment in
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Huntington's disease-like 2 can present as chorea-acanthocytosis.Neurology. 2004 Sep 14;63(5):939-40; author reply 939-40. doi: 10.1212/wnl.63.5.939-a. Neurology. 2004. PMID: 15365163 No abstract available.
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