DISEASES

Disease-gene associations mined from literature

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 ...