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Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

by Parton, M J , Figueroa-Bonaparte, S , Petty, R , Farrugia, M E , Straub, V , Hilton-Jones, D , Barresi, R , Williams, T , Dougan, C F , Polvikoski, T , Harris, E , Quinlivan, R , Longman, C , Guglieri, M , Bushby, K , Willis, T A , Töpf, A , Hanna, M G , Evangelista, T , Hudson, J , Lochmüller, H

in Adenosine Triphosphatases - genetics / Adult / Biological Variation, Population - genetics / Biopsy / Cell Cycle Proteins - genetics / Dementia / Distal Myopathies - epidemiology / DNA Mutational Analysis / Female / Frontotemporal Dementia - epidemiology / Humans / Male / Mutation / Neuromuscular diseases / Pain / Parkinson's disease / Phenotype / PostScript / United Kingdom / Valosin Containing Protein

2016

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Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

2016

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Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

2016

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Journal Article

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

Parton, M J,

Figueroa-Bonaparte, S,

Petty, R,

Farrugia, M E,

Straub, V,

Hilton-Jones, D,

Barresi, R,

Williams, T,

Dougan, C F,

Polvikoski, T,

Harris, E,

Quinlivan, R,

Longman, C,

Guglieri, M,

Bushby, K,

Willis, T A,

Töpf, A,

Hanna, M G,

Evangelista, T,

Hudson, J,

Lochmüller, H

2016

Overview

Introduction Hereditary inclusion body myopathy (IBM) with Paget's disease of the bone (PDB) and frontotemporal dementia (FTD) (IBMPFD) is a rare autosomal dominant disorder due to mutations in the valosin-containing protein gene (VCP). The identification of mutations in different exons emphasises that full gene sequencing is required to exclude VCP-related disease.

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Publisher

BMJ Publishing Group LTD,BMJ Publishing Group

Subject

Adenosine Triphosphatases - genetics

/ Adult

/ Biological Variation, Population - genetics

/ Biopsy

/ Cell Cycle Proteins - genetics

/ Dementia

/ Distal Myopathies - epidemiology