Search Ontology:
Human Disease

GNE myopathy

Term ID
DOID:0080718
Synonyms
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. (5)
References
Ontology
Human Disease   ( DOID:0080718 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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