C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome
C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Scope and Contents
Contents
Huntington disease (HD), the most common inherited cause of chorea, is an autosomal dominant disorder, caused by an expanded trinucleotide CAG repeat (>39) in the
HTT
gene on chromosome 4p16.3. Among patients diagnosed as HD solely on clinical grounds, a certain number was negative on genetic testing for HD. Therefore, HD-like disorders compr...
Alternative Titles
Full title
C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome
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Author / Creator
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Record Identifier
TN_cdi_proquest_miscellaneous_1618157949
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1618157949
Other Identifiers
ISSN
0340-5354
E-ISSN
1432-1459
DOI
10.1007/s00415-014-7430-8
