Human genes for neurogenic scapuloperoneal syndrome Kaeser type
Neurogenic scapuloperoneal syndrome Kaeser type [DOID:0111551]
A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35.
Synonyms: neurogenic scapuloperoneal syndrome Kaeser type, DOID:0111551, neurogenic scapuloperoneal syndrome Kaeser types, Kaeser syndrome, scapuloperoneal syndrome, neurogenic, Kaeser type ...