A hereditary autosomal recessive muscular disorder with early adult onset that is characterized by weakness of the anterior compartment of the lower limbs, however the quadriceps muscles are spared. Numerous rimmed VACUOLES are present in muscle biopsy, but there appear to be no inflammatory cells. Mutations in the GNE gene have been identified; inclusion body myopathy 2 (OMIM: 600737) is an allelic disorder. OMIM: 605820
Also Known As:
Distal myopathy, Nonaka type; Distal Myopathy with Rimmed Vacuoles; Hereditary Inclusion Body Myopathy; Ibm2; Inclusion Body Myopathy 2; Myopathy, distal, with rimmed vacuoles; Nonaka Myopathy; Nonaka distal myopathy; Rimmed Vacuole Myopathy