Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy

被引：5

作者：

Chadani, Y

Kondoh, T

Kamimura, N

Matsumoto, T

Matsuzaka, T

Kobayashi, O

Kondo-Iida, E

Kobayashi, K

Nonaka, I

Toda, T

机构：

[1] Nagasaki Univ, Sch Med, Dept Pediat, Nagasaki 852, Japan

[2] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Ultrastruct Res, Tokyo, Japan

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

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2000年 / 177卷 / 02期

关键词：

Walker-Warburg syndrome; merosin; laminin alpha 2 chain; Fukuyama type congenital muscular dystrophy;

D O I：

10.1016/S0022-510X(00)00328-2

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A female patient who fulfilled the diagnostic criteria of Walker-Warburg syndrome had muscle biopsy finding of muscular dystrophy. There was normal expression of merosin (laminin alpha 2 chain) and dystrophin and only slightly reduced dystrophin-associated glycoprotein expression. On genetic analysis, she had no specific haplotype, the common mutation of 3kb insertion, or point mutations in the Fukuyama-type congenital muscular dystrophy gene, suggesting that the two diseases are not genetically identical. (C) 2000 published by Elsevier Science B.V.

引用

页码：150 / 153

页数：4

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