Literature DB >> 19383003

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

Filiz Koc1, A Irfan Guzel.   

Abstract

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.

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Year:  2009        PMID: 19383003     DOI: 10.1111/j.1346-8138.2009.00644.x

Source DB:  PubMed          Journal:  J Dermatol        ISSN: 0385-2407            Impact factor:   4.005


  1 in total

Review 1.  Charcot-Marie-Tooth syndrome and neurofibromatosis type 1 with multiple neurofibromas of the entire spinal nerve roots.

Authors:  David O Onu; Andrew W Hunn; Jens Peters-Willke
Journal:  BMJ Case Rep       Date:  2013-07-13
  1 in total

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