GENETIC IDENTITY OF FUKUYAMA-TYPE CONGENITAL MUSCULAR-DYSTROPHY AND WALKER-WARBURG SYNDROME

被引：52

作者：

TODA, T

YOSHIOKA, M

NAKAHORI, Y

KANAZAWA, I

NAKAMURA, Y

NAKAGOME, Y

机构：

[1] UNIV TOKYO,DEPT NEUROL,TOKYO,JAPAN

[2] CANC INST,DEPT BIOCHEM,TOKYO,JAPAN

[3] KOBE GEN HOSP,DEPT PEDIAT,KOBE,JAPAN

来源：

ANNALS OF NEUROLOGY | 1995年 / 37卷 / 01期

关键词：

D O I：

10.1002/ana.410370118

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Both Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-Warburg syndrome (WWS) are unusual generic syndromes consisting of congenital muscular dystrophy and complex malformations of the brain and eye. It has been intensively discussed whether FCMD and WWS belong to the same disease entity or not. We analyzed a family in which 3 siblings were affected with either FCMD or WWS by using polymorphic microsatellites flanking the FCMD locus on chromosome 3q31-33 The results suggested that both FCMD and WWS siblings shared the identical combination of mutations on either allele of the FCMD locus. FCMD and WWS could be ''genetically identical.

引用

页码：99 / 101

页数：3

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