Distal myopathy with rimmed vacuoles (DMRV; MIM 605820) is an autosomal recessive neuromuscular disorder characterized by weakness of the anterior compartment of the lower limbs, sparing the quadriceps muscles. Recently, mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannos amine kinase (GNE) gene have been identified as the genetic basis of DMRV. To investigate the mutation spectrum of the GNE gene in Korean patients with DMRV, we performed clinical and genetic analysis of nine unrelated patients suspected to have DMRV. Direct sequencing analysis revealed that eight out of nine patients (88.9%) were either homozygous or compound heterozygous for GNE gene mutations, including three known (C13S, R129Q, and V572L) and two novel mutations (M29T and A591P). The allelic frequencies of the V572L and C13S mutations were 68.8% (11/16) and 12.5% (2/16), respectively. These results suggest that screening for GNE gene mutations in patients suspected to have DMRV would be helpful for molecular diagnosis of DMRV in the Korean population.
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