A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family

Inclusion body myopathy (IBM) with Paget’s disease of bone (PDB) and/or frontotemporal dementia (FTD) (IBMPFD) was recently identified as rare autosomal dominant disorder due to mutations in VCP gene. However, VCP mutations have also been documented in patients with amyotrophic lateral sclerosis (AL...

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Detalles Bibliográficos
Autores principales: Bruno, Francesco, Conidi, Maria Elena, Puccio, Gianfranco, Frangipane, Francesca, Laganà, Valentina, Bernardi, Livia, Smirne, Nicoletta, Mirabelli, Maria, Colao, Rosanna, Curcio, Sabrina, Di Lorenzo, Raffaele, Maletta, Raffaele, Bruni, Amalia Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669739/
https://www.ncbi.nlm.nih.gov/pubmed/34917136
http://dx.doi.org/10.3389/fgene.2021.795029

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669739/
https://www.ncbi.nlm.nih.gov/pubmed/34917136
http://dx.doi.org/10.3389/fgene.2021.795029

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