Pathological consequences of VCP mutations on human striated muscle.

doi:10.1093/brain/awl238

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Article

Pathological consequences of VCP mutations on human striated muscle.

Brain : a journal of neurology - 1 Feb 2007

Hübbers Christian U, Clemen Christoph S, Kesper Kristina, Böddrich Annett, Hofmann Andreas, Kämäräinen Outi, Tolksdorf Karen, Stumpf Maria, Reichelt Julia, Roth Udo, Krause Sabine, Watts Giles, Kimonis Virginia, Wattjes Mike P, Reimann Jens, Thal Dietmar R, Biermann Katharina, Evert Bernd O, Lochmüller Hanns, Wanker Erich E, Schoser Benedikt G H, Noegel Angelika A, Schröder Rolf

Abstract excerpt

Mutations in the valosin-containing protein (VCP, p97) gene on chromosome 9p13-p12 cause a late-onset form of autosomal dominant inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia (IBMPFD). We report on the pathological consequences of three heterozygous VCP (R93C, R155H, R155C) mutations on human striated muscle. IBMPFD skeletal muscle pathology is characterized by...

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PMID: 16984901
DOI: 10.1093/brain/awl238

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