P2.04 DMRV and GNE mutations: genotype–phenotype correlation in 100 Japanese patients

H Tomimitsu,A Arai,K Murayama,J Shimizu,N Suzuki,T Nagata,M Aoki,H Mizusawa,K Tanaka,I Nishino

doi:10.1016/j.nmd.2010.07.076

P2.04 DMRV and GNE mutations: genotype–phenotype correlation in 100 Japanese patients

H Tomimitsu, A Arai + Show 8 more

https://doi.org/10.1016/j.nmd.2010.07.076

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Journal: Neuromuscular disorders : NMD

Publication Date: Sep 4, 2010

Affiliation: Tokyo Medical and Dental University, Niigata University, National Center of Neurology and Psychiatry, The University of Tokyo, Tohoku University, Kanazawa Medical University

#Distal Myopathy With Rimmed Vacuoles #Distal Myopathy With Rimmed Vacuoles Patients + Show 8 more

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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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