2002年8月
No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V
ANNALS OF NEUROLOGY
- ,
- ,
- ,
- 巻
- 52
- 号
- 2
- 開始ページ
- 224
- 終了ページ
- 227
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1002/ana.10245
- 出版者・発行元
- WILEY-LISS
Hereditary sensory and autonomic neuropathy type TV (HSAN-IV) and type V (HSAN-V) are autosomal recessive genetic disorders, both characterized by a lack of pain sensation. We report a girl with clinical and neurophysiological findings consistent with a diagnosis of HSAN-V. We sequenced her TRKA gene, encoding a receptor tyrosine kinase for nerve growth factor and responsible for HSAN-IV, but we could not detect any mutation. These data indicate that a gene (or genes) other than TRKA is probably responsible for HSAN-V in some patients.
- リンク情報
- ID情報
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- DOI : 10.1002/ana.10245
- ISSN : 0364-5134
- Web of Science ID : WOS:000177140000014