A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.

doi:10.1002/ana.10341

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A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.

Aki Arai, Keiko Tanaka, Takeshi Ikeuchi, Shuichi Igarashi, Hisashi Kobayashi, Tomoya Asaka, Hidetoshi Date, Masaaki Saito, Hajime Tanaka, Sari Kawasaki, Eiichiro Uyama, Hidehiro Mizusawa, Nobuyoshi Fukuhara and Shoji Tsuji Ann Neurol 52(4):516-9 (2002) PMID 12325084

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 whether DMRV and HIBM are allelic diseases, we conducted mutational analysis of the GNE gene of six Japanese DMRV pedigrees and found that all the pedigrees share a homozygous mutation (V572L) associated with a strong linkage disequilibrium, suggesting a strong founder effect in Japanese DMRV pedigrees.

DOI: 10.1002/ana.10341
Version: za2963e q8zab q8zbf q8zc8 q8zd4 q8zed q8zf8 q8zg4

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A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.

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