X-linked Charcot-Marie-Tooth disease: Molecular analysis of interfamilial variability

被引:0
作者
Niewiadomski, LA [1 ]
Kelly, TE [1 ]
机构
[1] UNIV VIRGINIA,SCH MED,DIV MED GENET,CHARLOTTESVILLE,VA 22908
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1996年 / 66卷 / 02期
关键词
X-linked; Charcot-Marie-Tooth disease; connexin32; interfamilial variability;
D O I
10.1002/(SICI)1096-8628(19961211)66:2<175::AID-AJMG9>3.0.CO;2-Q
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
This report describes two families with type 1 Charcot-Marie-Tooth disease (CMTX), or hereditary motor sensory neuropathy type 1. Pedigree analysis is consistent with X-linked recessive inheritance in one family and X-Linked dominant inheritance in the second. In the first family, a mutation in the connexin32 gene has been demonstrated and analyzed in family members. In the second family, linkage analysis is consistent with a mutation at the same locus. This report demonstrates the interfamilial variability in X-Linked CMT and underscores the observation that regardless of the pattern of inheritance, X-linked CMT constitutes a single,variable disorder. (C) 1996 Wiley-Liss, Inc.
引用
收藏
页码:175 / 178
页数:4
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