CLINICAL VARIABILITY IN 2 PAIRS OF IDENTICAL-TWINS WITH THE CHAREOT-MARIE-TOOTH DISEASE TYPE 1A DUPLICATION

被引：88

作者：

GARCIA, CA

MALAMUT, RE

ENGLAND, JD

PARRY, GS

LIU, P

LUPSKI, JR

机构：

[1] LOUISIANA STATE UNIV,MED CTR,DEPT PATHOL,NEW ORLEANS,LA 70112

[2] BAYLOR COLL MED,DEPT MOLEC GENET,HOUSTON,TX 77030

[3] BAYLOR COLL MED,DEPT HUMAN GENET,HOUSTON,TX 77030

[4] BAYLOR COLL MED,DEPT PEDIAT,HOUSTON,TX 77030

[5] BAYLOR COLL MED,CTR HUMAN GENOME,HOUSTON,TX 77030

来源：

NEUROLOGY | 1995年 / 45卷 / 11期

关键词：

D O I：

10.1212/WNL.45.11.2090

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report two pairs of male homozygotic twins in two unrelated families with the Charcot-Marie-Tooth disease type 1A duplication. Homozygosity was supported by DNA analysis. There was remarkable congruity of conduction velocities between the left and right side of each twin and between twin brothers. The similarity and symmetry of the electrophysiologic deficit contrast with the variable and asymmetric clinical presentations. Variability of clinical expression in these patients with identical mutations suggests the action of stochastic factors or environmental modulation of disease severity.

引用

页码：2090 / 2093

页数：4

共 30 条

[1] Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy [J].