A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees
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DOI：
10.1002/ana.10341
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发表时间：
2002-10-01
影响因子：
11.2
通讯作者：
Tsuji, S
中科院分区：
文献类型：
--
作者：
Arai, A;Tanaka, K;Tsuji, S
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-acetyl-mannosamine 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.
