Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy

被引：9

作者：

Jong, YJ ^{[1
]}

Kobayashi, K

Toda, T

Kondo-lida, E

Huang, SC

Shen, YZ

Nonaka, I

Fukuyama, Y

机构：

[1] Kaohsiung Med Univ, Dept Pediat, Kaohsiung 80707, Taiwan

[2] Kaohsiung Med Univ, Dept Clin Lab, Kaohsiung 80707, Taiwan

[3] Univ Tokyo, Inst Med Sci, Ctr Human Genome, Lab Genome Med, Tokyo, Japan

[4] Chang Gung Mem Hosp, Dept Pediat, Kaohsiung, Taiwan

[5] Natl Taiwan Univ, Dept Pediat, Taipei 10764, Taiwan

[6] NCNP, Natl Inst Neurosci, Tokyo, Japan

[7] Tokyo Womens Med Univ, Dept Pediat, Tokyo, Japan

来源：

NEUROMUSCULAR DISORDERS | 2000年 / 10卷 / 02期

关键词：

Fukuyama congenital muscular dystrophy (FCMD); 9q31; founder haplotype; Fukutin gene;

D O I：

10.1016/S0960-8966(99)00091-7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Three Chinese patients, two boys and one girl, were afflicted with the typical clinical, myopathological and neuroradiological findings of Fukuyama congenital muscular dystrophy (FCMD). Polymorphism analysis of our patients did not reveal the founder haplotype (138-192-147- 183 in D9S2105- D9S2170-D9S2171-D9S2107) of Japanese FCMD, even though one patient was descended from Japanese ancestry. Full mutational analysis of the fukutin gene revealed that then is neither 3 kb insertion nor paint mutation. These findings suggest genetic heterogeneity between Chinese and Japanese FCMD patients. (C) 2000 Elsevier science B.V. All rights reserved.

引用

页码：108 / 112

页数：5

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