Distal myopathy with rimmed vacuoles

Nonaka, Ikuya; Murakami, Nobuyuki; Suzuki, Yume; Kawai, Mitsuru

doi:10.1016/s0960-8966(98)00027-3

Cited by 34 publications

(33 citation statements)

References 18 publications

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“…DMRV, also known as Nonaka myopathy, is a distinct clinical disease entity in young adults, characterized by the preferential involvement of anterior tibial muscle from the early stage of disease (Nonaka et al 1981(Nonaka et al , 1998. Recently, GNE gene mutations have been identified in DMRV (Eisenberg et al 2001;Nishino et al 2002) and over 40 mutations have been found across the whole coding region of the GNE gene thus far.…”

Section: Discussionmentioning

confidence: 99%

“…Distal myopathy with rimmed vacuoles (DMRV; MIM 605820) is a major entity of distal myopathy developing in early adulthood with weakness of the anterior compartment of the lower limbs, and is characterized by the presence of prominent rimmed vacuoles in muscle fibers with modest elevation of serum creatine kinase (CK) (Nonaka et al 1981(Nonaka et al , 1998.…”

Section: Introductionmentioning

confidence: 99%

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Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

Kim

et al. 2005

J Hum Genet

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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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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

Kim

et al. 2005

J Hum Genet

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“…The clinical manifestations of our patients with GNE mutations are consistent, as described in Table 1, and resemble those of the previously reported classic DMRV/hereditary inclusion body myopathy. 17,18 The homozygous M712T mutation on exon 12 was shown to be a founder mutation in Middle Eastern Jewish patients with DMRV, whereas the mutations in Japanese patients with DMRV were more complex and involved almost all exons, no matter whether they are homozygous or compound heterozygous. 9,19,20 Of 55 unrelated Japanese DMRV patients, the p.V572L mutation is the most common and accounts for 57% of the mutant alleles.…”

Section: Discussionmentioning

confidence: 99%

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

Chen

Liu

et al. 2011

J Hum Genet

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“…Distal myopathy with rimmed vacuoles (DMRV) 1 is an autosomal recessive disorder characterized clinically by the preferential involvement of the tibialis anterior muscle, sparing the quadriceps muscles as originally described in 1981 (1,2). The age at onset is relatively late with a mean of 26 years.…”

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confidence: 99%

Reduction of UDP-N-acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Activity and Sialylation in Distal Myopathy with Rimmed Vacuoles

Noguchi

Keira

Murayama³

et al. 2004

Journal of Biological Chemistry

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149

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Distal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the tibialis anterior that spares the quadriceps muscles in young adulthood. In a Japanese patient with distal myopathy with rimmed vacuoles, we identified pathogenic mutations in the gene encoding the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes the initial two steps in the biosynthesis of sialic acid. In this study, we demonstrated the relationship between the genetic mutations and enzymatic activities using an in vitro expression assay system. Furthermore, we also showed that the levels of sialic acid in muscle and primary cultured cells from DMRV patients were reduced to 60 -75% of control. The reactivities to lectins were also variable in some myofibers, suggesting that hyposialylation and abnormal glycosylation in muscles may contribute to the focal accumulations of autophagic vacuoles, amyloid deposits, or both in patient muscle tissue. The addition of ManNAc and NeuAc to primary cultured cells normalized sialylation levels, thus demonstrating the therapeutic potential of these compounds for this disease.

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Distal myopathy with rimmed vacuoles

Cited by 34 publications

References 18 publications

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

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

Reduction of UDP-N-acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Activity and Sialylation in Distal Myopathy with Rimmed Vacuoles

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