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A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

✍ Scribed by Sabine Krause; Beate Schlotter-Weigel; Maggie C. Walter; Hossein Najmabadi; Heinz Wiendl; Josef Müller-Höcker; Wolfgang Müller-Felber; Dieter Pongratz; Hanns Lochmüller


Book ID
117669794
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
216 KB
Volume
13
Category
Article
ISSN
0960-8966

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A novel mutation in the VCP gene (G157R)
✍ Atbin Djamshidian; Jochen Schaefer; Dietrich Haubenberger; Elisabeth Stogmann; F 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB 👁 1 views

## Abstract Mutations in the valosin‐containing protein (__VCP__) are known to cause autosomal‐dominant inclusion‐body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the N‐terminal region of the __VCP__ gene in a German fam