期刊
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
卷 16, 期 6, 页码 730-735出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.ejpn.2012.02.003
关键词
Sideroblastic anemia; Ataxia; X-linked sideroblastic anemia and ataxia; ABCB7 gene mutation; Heme synthesis; Iron-sulfur cluster biogenesis
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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