Novel XK mutation in a McLeod patient diagnosed after heart transplant
Novel XK mutation in a McLeod patient diagnosed after heart transplant
About this item
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Author / Creator
Publisher
Netherlands: Elsevier B.V
Journal title
Language
English
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Publication information
Publisher
Netherlands: Elsevier B.V
Subjects
More information
Scope and Contents
Contents
•McLeod syndrome is a differential diagnosis of Huntington disease.•We describe a new mutation of the XK gene in exon 3 leading to a premature stop codon.•Our patient underwent heart transplantation with good outcome.•Autologous blood of patients in case transfusions are needed because of the hematologic particularity of this disease.
Alternative Titles
Full title
Novel XK mutation in a McLeod patient diagnosed after heart transplant
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Record Identifier
TN_cdi_proquest_miscellaneous_2012923183
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2012923183
Other Identifiers
ISSN
0303-8467
E-ISSN
1872-6968
DOI
10.1016/j.clineuro.2018.02.039
