Neurofibromatosis type 1 associated with Charcot-Marie-Tooth type 1A

被引：3

作者：

Koc, Filiz ^{[1
]}

Guzel, A. Irfan ^{[2
]}

机构：

[1] Cukurova Univ, Sch Med, Dept Neurol, TR-01330 Adana, Turkey

[2] Dept Med Biol & Genet, Adana, Turkey

来源：

JOURNAL OF DERMATOLOGY | 2009年 / 36卷 / 05期

关键词：

Charcot-Marie-Tooth type 1A; duplication at chromosome 17p11; 2; neurofibromatosis type 1; SHORT TANDEM REPEATS; IA DUPLICATION; MUTATION-RATE; DIAGNOSIS; DISEASE; NF1;

D O I：

10.1111/j.1346-8138.2009.00644.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Neurofibromatosis and Charcot-Marie-Tooth are genetic disorders of the nervous system affecting the development and growth of nerve cells and demyelination of peripheral neurons, respectively. We report a 22-year-old man who presented clinical manifestations of both neurofibromatosis type 1 (NF1) and Charcot-Marie-Tooth type 1A. The simultaneous occurrence of neurofibromatosis and Charcot-Marie-Tooth disease has rarely been reported. More extensive reports and further investigations of this combination will certainly provide a better understanding of this linkage in the near future.

引用

页码：306 / 311

页数：6

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