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Article

The McLeod syndrome without acanthocytes.

Parkinsonism & related disorders - 1 Jan 2008

Klempír Jirí, Roth Jan, Zárubová Katerina, Písacka Martin, Spacková Natasa, Tilley Louise

Abstract excerpt

A 45-year-old man developed chorea, behavioural changes, moderate amyotrophy and polyneuropathy. Hypertrophic cardiomyopathy and increased serum lactate dehydrogenase and creatine kinase (CK) were found. Acanthocytes were not detected. The absence of XK protein and faintly expressed Kell antigens on erythrocytes were found. Genetic test revealed a R133X mutation of the XK gene, confirming the McLeod syndrome....

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Identifiers

PMID: 17870653
DOI: 10.1016/j.parkreldis.2007.07.011

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