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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Neuromuscul Disord
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados