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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

✍ Scribed by Andrea Stober; Angelo Aleo; Valerio Kuhl; Antje Bornemann; Maggie C. Walter; Hanns Lochmüller; Alfred Lindner; Sabine Krause


Book ID
116794377
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
200 KB
Volume
20
Category
Article
ISSN
0960-8966

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✍ 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