Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

Scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC, also known as HMSN2C or Charcot-Marie-Tooth disease type 2C (CMT2C)) are phenotypically heterogeneous disorders involving topographically distinct nerves and muscles. We originally describ...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Deng, Han-Xiang, Klein, Christopher J, Yan, Jianhua, Shi, Yong, Wu, Yanhong, Fecto, Faisal, Yau, Hau-Jie, Yang, Yi, Zhai, Hong, Siddique, Nailah, Hedley-Whyte, E Tessa, DeLong, Robert, Martina, Marco, Dyck, Peter J, Siddique, Teepu
Formato: Artigo
Lenguaje:Inglês
Publicado: 2009
Materias:
Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3786192/
https://ncbi.nlm.nih.gov/pubmed/20037587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.509
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares