𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy

✍ Scribed by Roberto Del Bo; Pierluigi Baron; Alessandro Prelle; Massimo Serafini; Maurizio Moggio; Alessio Di Fonzo; Marina Castagni; Nereo Bresolin; Giacomo Pietro Comi


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
499 KB
Volume
28
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Novel GNE mutations in Italian families
✍ 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

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