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 (...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Neuromuscul Disord
Autori principali: Plewa, Jake, Surampalli, Abhilasha, Wencel, Marie, Milad, Merit, Donkervoort, Sandra, Caiozzo, Vincent J., Goyal, Namita, Mozaffar, Tahseen, Kimonis, Virginia
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2018
Soggetti:
Article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi