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Title
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X-linked sideroblastic anemia and ataxia : a new family with identification of a fourth ABCB7 gene mutation
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Author
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Abstract
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| X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. The genetic defect has been identified as a mutation in the ABCB7 gene at Xq12-q13. The gene encodes a mitochondrial ATP-binding cassette (ABC) transporter protein involved in iron homeostasis. Until now only three families have been reported, each with a distinct missense mutation in this gene. We describe a fourth family with XLSA-A and a novel mutation in the ABCB7 gene. (C) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. |
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Language
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English
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Source (journal)
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European journal of paediatric neurology. - London
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Publication
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London
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2012
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ISSN
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1090-3798
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DOI
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10.1016/J.EJPN.2012.02.003
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Volume/pages
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16
:6
(2012)
, p. 730-735
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ISI
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000310862800024
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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