loading...| Preferred Name |
Distal myopathy, Nonaka type |
| Synonyms |
Inclusion Body Myopathy 2 |
| ID |
http://purl.bioontology.org/ontology/MESH/C536816 |
| altLabel |
Inclusion Body Myopathy 2 Ibm2 Nonaka distal myopathy Distal Myopathy with Rimmed Vacuoles Hereditary Inclusion Body Myopathy Nonaka Myopathy Rimmed Vacuole Myopathy Myopathy, distal, with rimmed vacuoles |
| cui |
C1853926 |
| HM |
D049310 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
40 |
| MMR |
20150818 |
| notation |
C536816 |
| prefLabel |
Distal myopathy, Nonaka type |
| SC |
3 |
| Scope Statement |
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 |
| TERMUI |
T841735 T740529 T740531 T841736 T841732 T740530 T841733 T806511 T841734 |
| TH |
OMIM (2014) ORD (2014) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |