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

• GARD:9493
• MESH:C536816
• MESH:C538329
• NCI:C176900
• OMIM:605820
• ORDO:602
• SNOMEDCT_US_2023_03_01:702382000
• UMLS_CUI:C1833373
• UMLS_CUI:C1853926

Ontology

Human Disease   ( DOID:0080718 )