Cargando…
Arthropathy-related pain in a patient with congenital impairment of pain sensation due to hereditary sensory and autonomic neuropathy type II with a rare mutation in the WNK1/HSN2 gene: a case report
BACKGROUND: Hereditary sensory and autonomic neuropathy (HSAN) type II with WNK1/HSN2 gene mutation is a rare disease characterized by early-onset demyelination sensory loss and skin ulceration. To the best of our knowledge, no cases of an autonomic disorder have been reported clearly in a patient w...
Autores principales: | Yamada, Keiko, Yuan, Junhui, Mano, Tomoo, Takashima, Hiroshi, Shibata, Masahiko |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073964/ https://www.ncbi.nlm.nih.gov/pubmed/27765018 http://dx.doi.org/10.1186/s12883-016-0727-8 |
Ejemplares similares
-
WNK1/HSN2 isoform and the regulation of KCC2 activity
por: Bercier, Valérie
Publicado: (2013) -
A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree
por: Rahmani, Behrouz, et al.
Publicado: (2018) -
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
por: Lischka, Annette, et al.
Publicado: (2023) -
Hereditary and Sensory Autonomic Neuropathies
por: Khaledi, Mojdeh, et al.
Publicado: (2012) -
Comparative Analysis of the Expression Profile of Wnk1 and Wnk1/Hsn2 Splice Variants in Developing and Adult Mouse Tissues
por: Shekarabi, Masoud, et al.
Publicado: (2013)