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Analysis of the McLeod syndrome gene in three patients with neuroacanthocytosis.

Abstract：

:McLeod syndrome is a rare X-linked disorder involving neurological defects and acanthocytosis. We examined the XK gene in three patients with neuroacanthocytosis, one of whom had cardiomyopathy, and his symptoms were very similar to those of McLeod syndrome. We found two new transversions (C to G at codon 204 and G to C at codon 205) in exon 3 in all those cases. However, the transversion at codon 205 was found in all 70 Japanese normal subjects and four non-Japanese (two Caucasian males, one Chinese female and one Micronesian female) and that at codon 204 was also detected in all 14 normal Japanese males and the four non-Japanese. These findings suggest that they are not the cause of McLeod syndrome, but normal polymorphisms which have not been reported. Moreover, there is a possibility that patients with neuroacanthocytosis similar to McLeod syndrome exist without the XK gene abnormalities.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Shizuka M,Watanabe M,Aoki M,Ikeda Y,Mizushima K,Okamoto K,Itoyama Y,Abe K,Shoji M

doi

10.1016/s0022-510x(97)00067-1

subject

Has Abstract

pub_date

1997-09-10 00:00:00

pages

133-5

issue

2

eissn

0022-510X

issn

1878-5883

pii

S0022510X97000671

journal_volume

150

pub_type

杂志文章

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