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...

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Detalhes bibliográficos
Main Authors: 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
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha: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
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