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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 with Rimmed Vacuoles, Distal myopathy, Nonaka type, Hereditary Inclusion Body Myopathy, Nonaka myopathy, inclusion body myopathy 2,
Xenbase Genes
:
gne,
sqstm1
Other Model Organisms: AGR, 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)