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Article

Phenotypic variability of a distinct deletion in McLeod syndrome.

Movement disorders : official journal of the Movement Disorder Society - 15 Jul 2007

Miranda Marcelo, Castiglioni Claudia, Frey Beat M, Hergersberg Martin, Danek Adrian, Jung Hans H

Abstract excerpt

The X-linked McLeod neuroacanthocytosis syndrome strongly resembles Huntington's disease and has been reported in various countries world-wide. Herein, we report two Chilean brothers with predominant psychiatric features at disease onset including schizophrenia-like psychosis and obsessive compulsive disorder. Molecular genetic analysis revealed a small deletion in the XK gene (938-942delCTCTA), which has been...

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PMID: 17469188
DOI: 10.1002/mds.21536

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