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GENATLAS PHENOTYPE
last update : 25-03-2013
Symbol DMRV
Location 9p13.3
Name myopathy, distal, with rimmed vacuoles
Other name(s)
  • Nonaka distal myopathy
    • Corresponding gene GNE
    Other symbol(s) NM
    Main clinical features
  • characterized by weakness of the anterior compartment of lower limbs with onset in early adulthood and sparing of the quadricpes, allelic to IBM2
    • Genetic determination autosomal recessive
    Related entries see IBM2, inclusion body myopathy 2 (mim 600737)
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name UDP-N acetylglucosamine-2-epimerase/N acetylmannosine kinase (GNE)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
          M712T, which is the most common mutation in Jewish hereditary inclusion body myopathy (IBM2)
    Remark(s) hyposialylation plays an important role in the pathomechanism of DMRV/IBM