A novel mutation in the valosin-containing-protein gene found in a Spanish family

Giuseppe Lucente; Míriam Almendrote; Alba Ramos-Fransi; Alicia Martínez-Piñeiro; Pilar Camaño; Alfonsina Ballester-Lopez; Alejandro Lucia; Cristina Carrato; Gisela Nogales-Gadea; Jaume Coll-Cantí

doi:10.1016/j.jns.2018.06.010

A novel mutation in the valosin-containing-protein gene found in a Spanish family

J Neurol Sci. 2018 Aug 15:391:112-113. doi: 10.1016/j.jns.2018.06.010. Epub 2018 Jun 13.

Affiliations

¹ Neuromuscular Diseases Unit, Department of Neurosciences, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain; Grup de Recerca en Malalties Neuromusculars i Neuropediatriques, Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain.
² Neuromuscular Diseases Unit, Department of Neurosciences, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain; Grup de Recerca en Malalties Neuromusculars i Neuropediatriques, Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain. Electronic address: malmendrote.germanstrias@gencat.cat.
³ Neuromuscular Diseases Unit, Department of Neurosciences, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain; Grup de Recerca en Malalties Neuromusculars i Neuropediatriques, Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain. Electronic address: aramosfransi@gmail.com.
⁴ Molecular Diagnostics Platform, BioDonostia Health Research Institute, Hospital Donostia, San Sebastián, Spain.
⁵ Grup de Recerca en Malalties Neuromusculars i Neuropediatriques, Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain.
⁶ Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Universidad Europea, Instituto de investigación Hospital, 12 de Octubre (i+12), Madrid, Spain.
⁷ Servicio de Anatomia Patológica, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain.

PMID: 30103957
DOI: 10.1016/j.jns.2018.06.010

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Distal Myopathies / diagnostic imaging
Distal Myopathies / genetics*
Distal Myopathies / pathology
Family
Female
Humans
Male
Middle Aged
Mutation*
Osteitis Deformans / diagnostic imaging
Osteitis Deformans / genetics*
Osteitis Deformans / pathology
Phenotype
Valosin Containing Protein / genetics*

Substances

VCP protein, human
Valosin Containing Protein

Supplementary concepts

Distal myopathy, Nonaka type