A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene

Inclusion body myopathy (IBM) associated with Paget disease of the bone and frontotemporal dementia or IBMPFD is an autosomal dominant degenerative disorder caused by mutations in the valosin-containing protein (VCP) gene. We aim to establish a detailed clinical phenotype of VCP disease amongst 35 (...

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Detalhes bibliográficos
Publicado no:Neuromuscul Disord
Main Authors: Plewa, Jake, Surampalli, Abhilasha, Wencel, Marie, Milad, Merit, Donkervoort, Sandra, Caiozzo, Vincent J., Goyal, Namita, Mozaffar, Tahseen, Kimonis, Virginia
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6490182/
https://ncbi.nlm.nih.gov/pubmed/30097247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2018.06.007
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