F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopy
F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopy
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Author / Creator
Peikert, Kevin , Schlotter-Weigel, Beate , Montagnese, Federica , Reilich, Peter , Saft, Carsten , Marxreiter, Franz , Kohl, Zacharias , Evers, Stefan , Kalckreuth, Wolfgang von , Buhmann, Carsten , Mayer, Beate , Walther, Ernst , Orth, Armin , Hoenig, Manfred , Nedeltchev, Krassen , Löscher, Wolfgang N , Jung, Hans H , Mattle-Greminger, Maja , Frey, Beat M , Hermann, Andreas and Danek, Adrian
Publisher
London: BMJ Publishing Group LTD
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Language
English
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Publisher
London: BMJ Publishing Group LTD
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Contents
BackgroundMcLeod syndrome (MLS) is an ultra-rare neurodegenerative X-linked disease caused by mutations in the XK gene, classified as one of the core neuroacanthocytosis syndromes. Together with the clinically very similar chorea-acanthocytosis it belongs to the heterogeneous group of ‘Huntington’s disease (HD) phenocopies’.AimsTo characterize a co...
Alternative Titles
Full title
F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopy
Authors, Artists and Contributors
Author / Creator
Schlotter-Weigel, Beate
Montagnese, Federica
Reilich, Peter
Saft, Carsten
Marxreiter, Franz
Kohl, Zacharias
Evers, Stefan
Kalckreuth, Wolfgang von
Buhmann, Carsten
Mayer, Beate
Walther, Ernst
Orth, Armin
Hoenig, Manfred
Nedeltchev, Krassen
Löscher, Wolfgang N
Jung, Hans H
Mattle-Greminger, Maja
Frey, Beat M
Hermann, Andreas
Danek, Adrian
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Record Identifier
TN_cdi_proquest_journals_2569313335
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2569313335
Other Identifiers
ISSN
0022-3050
E-ISSN
1468-330X
DOI
10.1136/jnnp-2021-EHDN.71
