A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy

BACKGROUND: Nerve growth factor β (NGFβ) and tyrosine kinase receptor type A (TRKA) are a well studied neurotrophin/receptor duo involved in neuronal survival and differentiation. The only previously reported hereditary sensory neuropathy caused by an NGF mutation, c.661C>T (HSAN5), and the patho...

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Autors principals: Carvalho, Ofélia P, Thornton, Gemma K, Hertecant, Joseph, Houlden, Henry, Nicholas, Adeline K, Cox, James J, Rielly, Mary, Al-Gazali, Lihadh, Woods, C Geoffrey
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2010
Matèries:
Short Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3030776/
https://ncbi.nlm.nih.gov/pubmed/20978020
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2010.081455
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