Article
A novel XK gene mutation in a Taiwanese family with McLeod syndrome.
Journal of the neurological sciences - 15 May 2014
Chen Pei-Yun, Lai Szu-Chia, Yang Chih-Chao, Lee Ming-Jen, Chiu Yen-Hui, Yan Sui-Hing, Lu Chin-Song, Yeh Tu-Hsueh
Abstract excerpt
McLeod syndrome is one subtype of rare neuroacanthocytosis syndromes characterized by misshapen red blood cells and progressive degeneration of the basal ganglia. It is an X-linked recessive disorder with mutation in the XK gene of the Kell blood group system with multisystem involvements. Concerning the movement disorders, its dyskinesias are various and difficult to differentiate from those in Huntington's...
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