title: 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.
authors.affiliation: Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, Hong Kong.
authors.forename: Bik Ling
authors.initials: BL
authors.lastname: Man
authors.affiliation: Department of Chemical Pathology, Prince of Wales Hospital, the Chinese University of Hong Kong, Hong Kong, Hong Kong.
authors.forename: Yuet Ping
authors.initials: YP
authors.lastname: Yuen
authors.affiliation: Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, Hong Kong.
authors.forename: Yat Pang
authors.initials: YP
authors.lastname: Fu
mesh_terms: D044466:Asian People / Q000235:genetics*; D001921:Brain / Q000473:pathology*; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics / Q000378:metabolism; D008875:Middle Aged; D009154:Mutation; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics / Q000378:metabolism; D054546:Neuroacanthocytosis / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism
chemical_list: D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases