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

โœ Scribed by Broccolini, A.; Pescatori, M.; D'Amico, A.; Sabino, A.; Silvestri, G.; Ricci, E.; Servidei, S.; Tonali, P. A.; Mirabella, M.


Book ID
126670172
Publisher
Lippincott Williams and Wilkins
Year
2002
Tongue
English
Weight
200 KB
Volume
59
Category
Article
ISSN
0028-3878

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Novel GNE mutations in Italian families
โœ Aldobrando Broccolini; Enzo Ricci; Denise Cassandrini; Carla Gliubizzi; Claudio ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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