Literature DB >> 23943810

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

B L Man1, Y P Yuen, S F Yip, S H Ng.   

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.

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Mesh：

Year:  2013        PMID： 23943810      PMCID： PMC3762422          DOI： 10.1136/bcr-2013-200205

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  7 in total

1.  A new phenotype (McLeod) in the Kell blood-group system.

Authors:  F H ALLEN; S M KRABBE; P A CORCORAN
Journal:  Vox Sang       Date:  1961-09       Impact factor: 2.144

Review 2.  Neuroacanthocytosis.

Authors:  Ruth H Walker; Hans H Jung; Adrian Danek
Journal:  Handb Clin Neurol       Date:  2011

3.  Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome.

Authors:  Ruth H Walker; Hans H Jung; François Tison; Soohee Lee; Adrian Danek
Journal:  Mov Disord       Date:  2007-01-15       Impact factor: 10.338

4.  McLeod neuroacanthocytosis: genotype and phenotype.

Authors:  A Danek; J P Rubio; L Rampoldi; M Ho; C Dobson-Stone; F Tison; W A Symmans; M Oechsner; W Kalckreuth; J M Watt; A J Corbett; H H Hamdalla; A G Marshall; I Sutton; M T Dotti; A Malandrini; R H Walker; G Daniels; A P Monaco
Journal:  Ann Neurol       Date:  2001-12       Impact factor: 10.422

Review 5.  McLeod syndrome: a neurohaematological disorder.

Authors:  H H Jung; A Danek; B M Frey
Journal:  Vox Sang       Date:  2007-08       Impact factor: 2.144

6.  Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.

Authors:  M Ho; J Chelly; N Carter; A Danek; P Crocker; A P Monaco
Journal:  Cell       Date:  1994-06-17       Impact factor: 41.582

Review 7.  Neuroacanthocytosis syndromes.

Authors:  Hans H Jung; Adrian Danek; Ruth H Walker
Journal:  Orphanet J Rare Dis       Date:  2011-10-25       Impact factor: 4.123
  7 in total
  3 in total

1.  The first report of a Chinese family with McLeod syndrome.

Authors:  Bik Ling Man; Yuet Ping Yuen; Yat Pang Fu
Journal:  BMJ Case Rep       Date:  2014-06-03

Review 2.  Neuroacanthocytosis in china: a review of published reports.

Authors:  Jia Liu; Benedikt Bader; Adrian Danek
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2014-10-31

3.  Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.

Authors:  Sarah Wiethoff; Georgia Xiromerisiou; Conceição Bettencourt; Anna Kioumi; Iakovos Tsiptsios; Athanasios Tychalas; Markousi Evaggelia; Kaltsounis George; Vasileios Makris; John Hardy; Henry Houlden
Journal:  J Neurol Sci       Date:  2014-02-01       Impact factor: 3.181
  3 in total

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