Phenotypic variability in three families with valosin-containing protein mutation

BACKGROUND AND PURPOSE: The phenotype of IBMPFD [inclusion body myopathy with Paget’s disease of the bone and frontotemporal dementia (FTD)] associated with valosin-containing protein(VCP) mutation is described in three families. METHODS: Probands were identified based on a pathological diagnosis of...

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Detalhes bibliográficos
Main Authors: Spina, S., Van Laar, A. D., Murrell, J. R., Hamilton, R. L., Kofler, J. K., Epperson, F., Farlow, M. R., Lopez, O. L., Quinlan, J., DeKosky, S. T., Ghetti, B.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3734548/
https://ncbi.nlm.nih.gov/pubmed/22900631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1468-1331.2012.03831.x
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