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

Koc F., GÜZEL A. B.

JOURNAL OF DERMATOLOGY, cilt.36, sa.5, ss.306-311, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 36 Sayı: 5
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1111/j.1346-8138.2009.00644.x
  • Dergi Adı: JOURNAL OF DERMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.306-311
  • Anahtar Kelimeler: Charcot-Marie-Tooth type 1A, duplication at chromosome 17p11, 2, neurofibromatosis type 1, SHORT TANDEM REPEATS, IA DUPLICATION, MUTATION-RATE, DIAGNOSIS, DISEASE, NF1
  • Çukurova Üniversitesi Adresli: Evet

Özet

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.