Abstract
Background: Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive disorder with preferential involvement of the distal muscles in lower extremities at young adulthood and spares quadriceps muscles. In DMRV patients, we previously identified homogeneous and compound heterozygous mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that is the causative gene in hereditary inclusion body myopathy (hIBM). Purpose: To investigate the correlation between phenotypes and genotypes in DMRV, we analyzed the information of 100 cases of this disease in Japan.
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