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DOID:0080718 - GNE myopathy
Disease Ontology 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.
Synonyms: Distal myopathy, Nonaka type, Distal Myopathy with Rimmed Vacuoles, Hereditary Inclusion Body Myopathy, inclusion body myopathy 2, Nonaka myopathy
Xenbase Genes
:
gne,
sqstm1
| MIM:605820 - NONAKA MYOPATHY; NM |
| MIM:617158 - MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
myopathy (is_a)