Clinical Studies in Familial VCP Myopathy Associated With Paget Disease of Bone and Frontotemporal Dementia

Inclusion body myopathy with Paget disease of the bone (PDB) and/or frontotemporal dementia (IBMPFD, OMIM 167320), is a progressive autosomal dominant disorder caused by mutations in the Valousin-containing protein (VCP, p97 or CDC48) gene. IBMPFD can be difficult to diagnose. We assembled data on a...

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Päätekijät: Kimonis, Virginia. E., Mehta, Sarju G., Fulchiero, Erin C., Thomasova, Dana, Pasquali, Marzia, Boycott, Kym, Neilan, Edward G., Kartashov, Alex, Forman, Mark S., Tucker, Stuart, Kimonis, Katerina, Mumm, Steven, Whyte, Michael P., Smith, Charles D., Watts, Giles D. J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2008
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC2467391/
https://ncbi.nlm.nih.gov/pubmed/18260132
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.31862
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