Term Name: | neurogenic scapuloperoneal syndrome Kaeser type |
---|---|
Synonyms: | Kaeser syndrome, scapuloperoneal syndrome type Kaeser, scapuloperoneal syndrome, neurogenic, Kaeser type, Stark-Kaeser syndrome |
Definition: | 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. |
Ontology: | Human Disease [DOID:0111551] ( DOID:0111551 ) |