HOMOZYGOUS EXPRESSION OF A DOMINANT GENE FOR CHARCOT-MARIE-TOOTH NEUROPATHY

被引：50

作者：

KILLIAN, JM

KLOEPFER, HW

机构：

[1] ST LUKES EPISCOPAL HOSP,DEPT NEUROPHYSIOL,HOUSTON,TX 77030

[2] BAYLOR UNIV,COLL MED,HOUSTON,TX 77025

[3] TUFTS UNIV,SCH MED,DEPT ANAT,BOSTON,MA 02111

来源：

ANNALS OF NEUROLOGY | 1979年 / 5卷 / 06期

关键词：

D O I：

10.1002/ana.410050604

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A kindred of 68 French Acadians who were heterozygous for a dominant gene of Charcot‐Marie‐Tooth disease associated with peripheral nerve hypertrophy are described. Marriage between 2 heterozygotes resulted in 2 homozygous offspring. Clinical features of the homozygotes were similar to the classic description of Dejerine‐Sottas disease. Laboratory studies in this family revealed no chemical, metabolic, or chromosomal abnormalities in either the homozygotes or the heterozygotes. Copyright © 1979 American Neurological Association

引用

页码：515 / 522

页数：8

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