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The first case report of McLeod syndrome in a Chinese patient.

ABSTRACT: We report the first case of McLeod syndrome (MLS) in a 47-year-old Chinese man who presented with progressive limb weakness, chorea of feet, red blood cell acanthocytosis, absence of Kx red blood cell antigen and weak expression of Kell antigens. The diagnosis of MLS was confirmed by genetic testing showing a hemizygous mutation of XK gene. We review literature on neuroacanthocytosis in the Chinese population.

SUBMITTER: Man BL

PROVIDER: S-EPMC3762422 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature

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The first case report of McLeod syndrome in a Chinese patient.

Man B L BL Yuen Y P YP Yip S F SF Ng S H SH

BMJ case reports 20130813

We report the first case of McLeod syndrome (MLS) in a 47-year-old Chinese man who presented with progressive limb weakness, chorea of feet, red blood cell acanthocytosis, absence of Kx red blood cell antigen and weak expression of Kell antigens. The diagnosis of MLS was confirmed by genetic testing showing a hemizygous mutation of XK gene. We review literature on neuroacanthocytosis in the Chinese population. ...[more]

PMID: 23943810

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