## 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
✦ 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
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## 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