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Novel GNE compound heterozygous mutations in a GNE myopathy patient

โœ Scribed by Cai, Huaying; Yabe, Ichiro; Shirai, Shinichi; Nishimura, Hiroaki; Hirotani, Makoto; Kano, Takahiro; Houzen, Hideki; Yoshida, Kazuto; Sasaki, Hidenao


Book ID
120984826
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
379 KB
Volume
48
Category
Article
ISSN
0148-639X

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## 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