✦ LIBER ✦

Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy

✍ Scribed by Y. Motozaki; K. Komai; M. Hirohata; T. Asaka; K. Ono; M. Yamada

Book ID: 111065252
Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 94 KB
Volume: 14
Category: Article
ISSN: 1351-5101
DOI: 10.1111/j.1468-1331.2007.01905.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel homozygous missense mutation in

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

✍ Sabine Krause; Beate Schlotter-Weigel; Maggie C. Walter; Hossein Najmabadi; Hein 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 216 KB

Novel GNE mutations in Italian families

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy

✍ Aldobrando Broccolini; Enzo Ricci; Denise Cassandrini; Carla Gliubizzi; Claudio 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB

## The most common form of autosomal recessive (AR) hereditary inclusion-body myopathy (HIBM), originally described in Persian-Jewish families, is characterized by onset in early adult life with weakness and atrophy of distal lower limb muscles, which progress proximally and relatively spare the q

Novel missense mutation p.A310P in the G

Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family

✍ Andrea Stober; Angelo Aleo; Valerio Kuhl; Antje Bornemann; Maggie C. Walter; Han 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 200 KB

An Italian family with autosomal recessi

An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene

✍ Broccolini, A.; Pescatori, M.; D'Amico, A.; Sabino, A.; Silvestri, G.; Ricci, E. 📂 Article 📅 2002 🏛 Lippincott Williams and Wilkins 🌐 English ⚖ 200 KB

Novel valosin containing protein mutatio

Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia

✍ Peyer, Anne-Kathrin; Kinter, Jochen; Hench, Jürgen; Frank, Stephan; Fuhr, Peter; 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 823 KB

A novel mutation in the VCP gene (G157R)

A novel mutation in the VCP gene (G157R) in a german family with inclusion-body myopathy with paget disease of bone and frontotemporal dementia

✍ 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