OBO ID: DOID:0080718
Term Name: GNE myopathy Search Ontology:
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)
OTHER GNE myopathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GNE Nonaka myopathy 605820
SQSTM1 Myopathy, distal, with rimmed vacuoles 617158
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None