| Metadata | |
|---|---|
| ID | DOID:0080718 |
| Name | GNE myopathy |
| Definition | A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2, https://pubmed.ncbi.nlm.nih.gov/29720219/, https://pubmed.ncbi.nlm.nih.gov/30338442/, https://rarediseases.org/rare-diseases/gne-myopathy/, https://www.genome.gov/Current-NHGRI-Clinical-Studies/GNE-Myopathy |
| Xrefs |
SNOMEDCT_US_2023_03_01:702382000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Distal Myopathy with Rimmed Vacuoles [RELATED] Distal myopathy, Nonaka type [EXACT] Hereditary Inclusion Body Myopathy [EXACT] inclusion body myopathy 2 [EXACT] Nonaka myopathy [EXACT] |
| Parent Relationships |
is_a myopathy |