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The first report of a Chinese family with McLeod syndrome.

ABSTRACT: We report the first case of a Chinese family with McLeod syndrome (MLS). The two affected brothers show significant phenotypic heterogeneity. The index case has peripheral acanthocytosis, choreoathetosis of his feet, a slowly progressive neuropathy and myopathy, and an elevated serum creatine kinase (CK) level. His elder brother has more prominent chorea of the shoulders, epilepsy, a rapidly progressive neuropathy and normal serum CK. The diagnosis of MLS was confirmed by a genetic test which showed a hemizygous frameshift mutation in the XK gene.

SUBMITTER: Man BL 

PROVIDER: S-EPMC4054476 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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The first report of a Chinese family with McLeod syndrome.

Man Bik Ling BL   Yuen Yuet Ping YP   Fu Yat Pang YP  

BMJ case reports 20140603

We report the first case of a Chinese family with McLeod syndrome (MLS). The two affected brothers show significant phenotypic heterogeneity. The index case has peripheral acanthocytosis, choreoathetosis of his feet, a slowly progressive neuropathy and myopathy, and an elevated serum creatine kinase (CK) level. His elder brother has more prominent chorea of the shoulders, epilepsy, a rapidly progressive neuropathy and normal serum CK. The diagnosis of MLS was confirmed by a genetic test which sh  ...[more]

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