A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type IA with sensorineural deafness

被引：19

作者：

Joo, IS

Ki, CS

Joo, SY

Huh, K

Kim, JW

机构：

[1] Sungkyunkwan Univ, Sch Med, Samsung Med ctr, Dept Lab Med, Seoul 135710, South Korea

[2] Ajou Univ, Sch Med, Dept Neurol, Suwon 441749, South Korea

来源：

NEUROMUSCULAR DISORDERS | 2004年 / 14卷 / 05期

关键词：

Charcot-Marie-Tooth disease with deafness; PMP22; gene; a novel missense mutation;

D O I：

10.1016/j.nmd.2004.02.009

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Charcot-Marie-Tooth disease with deafness is a clinically distinct entity and is associated with mutations or deletions in several genes including PMP22 gene. Here, we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C > G) co-segregating with the disease phenotype and leading to a T23R missense mutation in PMP22. (C) 2004 Elsevier B.V. All rights reserved.

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页码：325 / 328

页数：4

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