A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation

Inclusion body myopathy, Paget disease of bone and/or frontotemporal dementia is an autosomal dominant disease caused by mutations in the Valosin Containing Protein (VCP) gene. We compared clinical findings including MRI images and neuropsychological assessment data in affected and unaffected twin b...

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Vydáno v:Neuromuscul Disord
Hlavní autoři: Surampalli, Abhilasha, Gold, Brian T., Smith, Charles, Castellani, Rudy J., Khare, Manaswitha, Yu, Hon, Nguyen, Celeste, Lan, Mary, Wencel, Marie, Wigal, Sharon, Caiozzo, Vince, Kimonis, Virginia
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5591024/
https://ncbi.nlm.nih.gov/pubmed/25582679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2014.10.003
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