Human genes for GNE myopathy
GNE myopathy [DOID:0080718]
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: GNE myopathy, DOID:0080718, GNE myopathies, Distal myopathy, Nonaka type, Distal Myopathy with Rimmed Vacuoles ...