CareLit · DOI-Nachweis · Aktuelle Neurologie
Valosin-containing protein aggregation in inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia
DOI 10.1055/s-2004-833190
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Autor:innenK Kesper, G Watts, S Mehta, M Wattjes, J Reimann, K Fließbach, D Thal, G Lutterbey, B Evert, T Klockgether, V Kimonis, R Schröder
ZeitschriftAktuelle Neurologie
Ausgabe09/2004
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Mutations of the valosin containing protein (VCP) on chromosome 9p13-p12 have recently been shown to cause autosomal dominant inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia (IBMPFD). Here, we report clinical and muscle pathology findings in a 54 year old German patient harbouring a 464 G>A nucleotide substitution (R155H) in exon 5 of the VCP gene. In addition to mild fr…
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Zitierempfehlung
K Kesper, G Watts, S Mehta, M Wattjes, J Reimann, K Fließbach, D Thal, G Lutterbey, B Evert, T Klockgether, V Kimonis, R Schröder (2004) Valosin-containing protein aggregation in inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2004-833190
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