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

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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Autores principales: Francesco Bruno, Maria Elena Conidi, Gianfranco Puccio, Francesca Frangipane, Valentina Laganà, Livia Bernardi, Nicoletta Smirne, Maria Mirabelli, Rosanna Colao, Sabrina Curcio, Raffaele Di Lorenzo, Raffaele Maletta, Amalia Cecilia Bruni
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
Materias:
VCP gene
novel mutation
D395A
frontotemporal dementia
bvFTD
body myopathy
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/4c8c51cfb59943f4a1c156cada635728
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https://doaj.org/article/4c8c51cfb59943f4a1c156cada635728

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