A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation

Tangier disease is an autosomal recessive disorder characterized by severe reduction in HDL-cholesterol and peripheral lipid storage. We describe a family with c.5094C>A p.Tyr16980* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropath...

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出版年:	Frontiers in Neurology
主要な著者:	Marco Ceccanti, Chiara Cambieri, Vittorio Frasca, Emanuela Onesti, Antonella Biasotta, Carla Giordano, Sabina Maria Bruno, Giancarlo Testino, Marco Lucarelli, Marcello Arca, Maurizio Inghilleri
フォーマット:	論文
言語:	英語
出版事項:	Frontiers Media S.A. 2016-11-01
主題:	Mutation Tangier Disease Neuropathy Hypoalphalipoproteinemia demielinating
オンライン･アクセス:	http://journal.frontiersin.org/Journal/10.3389/fneur.2016.00185/full