Familial episodic limb pain in kindreds with novel Nav1.9 mutations

We previously performed genetic analysis in six unrelated families with infantile limb pain episodes, characterized by cold-induced deterioration and mitigation in adolescence, and reported two new mutations p.R222H/S in SCN11A responsible for these episodes. As no term described this syndrome (fami...

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Detalles Bibliográficos
Autores principales: Kabata, Risako, Okuda, Hiroko, Noguchi, Atsuko, Kondo, Daiki, Fujiwara, Michimasa, Hata, Kenichiro, Kato, Yoshifumi, Ishikawa, Ken, Tanaka, Manabu, Sekine, Yuji, Hishikawa, Nozomi, Mizukami, Tomoyuki, Ito, Junichi, Akasaka, Manami, Sakurai, Ken, Yoshida, Takeshi, Minoura, Hironori, Hayashi, Takashi, Inoshita, Kohei, Matsuyama, Misayo, Kinjo, Noriko, Cao, Yang, Inoue, Sumiko, Kobayashi, Hatasu, Harada, Kouji H., Youssefian, Shohab, Takahashi, Tsutomu, Koizumi, Akio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296736/
https://www.ncbi.nlm.nih.gov/pubmed/30557356
http://dx.doi.org/10.1371/journal.pone.0208516

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