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Distal myopathy with rimmed vacuoles (DMRVs) is an autosomal recessive vacuolar myopathy that has been reported in different ethnic populations with the common mutations of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. We presented the clinical, pathological and genetic characteristics of eight Chinese DMRV patients from six unrelated families. Six previously reported Chinese DMRV patients from four unrelated families were also reviewed for comparison in GNE mutations. In the present eight patients with DMRV, direct sequencing analysis revealed one homozygous mutation of c.1760T&gt;C (p.I587T) and seven compound heterozygous mutations in the GNE gene. The latter included two known mutations, c.1892C&gt;T (p.A631V) and c.527A&gt;T (p.D176V), and three novel mutations, c.1523T&gt;C (p.L508S), c.103G&gt;A (p.E35K) and c.153A&gt;G (p.I51M). The allelic frequency of c.1523T&gt;C (p.L508S) was 25% in the Chinese patients with DMRV. Our findings expand the genetic spectrum of DMRV and indicate that the common mutations of GNE gene in DMRV may be variable among different ethnic populations.

Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles