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Distal myopathy, Nonaka type MeSH Supplementary Concept Data 2024


MeSH Supplementary
Distal myopathy, Nonaka type
Unique ID
C536816
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536816
Entry Term(s)
Distal Myopathy with Rimmed Vacuoles
GNE myopathy
Hereditary Inclusion Body Myopathy
Ibm2
Inclusion Body Myopathy 2
Myopathy, distal, with rimmed vacuoles
Nonaka Myopathy
Nonaka distal myopathy
Rimmed Vacuole Myopathy
Heading Mapped to
*Distal Myopathies
Frequency
85
Note
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
Date of Entry
2010/08/25
Revision Date
2024/03/13
Distal myopathy, Nonaka type Preferred
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