Article
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
Annals of neurology - 1 Oct 2002
Arai Aki, Tanaka Keiko, Ikeuchi Takeshi, Igarashi Shuichi, Kobayashi Hisashi, Asaka Tomoya, Date Hidetoshi, Saito Masaaki, Tanaka Hajime, Kawasaki Sari, Uyama Eiichiro, Mizusawa Hidehiro, Fukuhara Nobuyoshi, Tsuji Shoji
Abstract excerpt
Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive muscular disorder characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood and sparing of the quadricep muscles. The UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene was recently identified as the causative gene for hereditary inclusion body myopathy (HIBM). To investigate...
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