Article
McLeod neuroacanthocytosis: genotype and phenotype.
Annals of neurology - 1 Dec 2001
Danek A, Rubio J P, Rampoldi L, Ho M, Dobson-Stone C, Tison F, Symmans W A, Oechsner M, Kalckreuth W, Watt J M, Corbett A J, Hamdalla H H, Marshall A G, Sutton I, Dotti M T, Malandrini A, Walker R H, Daniels G, Monaco A P
Abstract excerpt
McLeod syndrome is caused by mutations of XK, an X-chromosomal gene of unknown function. Originally defined as a peculiar Kell blood group variant, the disease affects multiple organs, including the nervous system, but is certainly underdiagnosed. We analyzed the mutations and clinical findings of 22 affected men, aged 27 to 72 years. Fifteen different XK mutations were found, nine of which were novel, including...
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