DISEASES

Disease-gene associations mined from literature

Human genes for Native American myopathy

Native American myopathy [DOID:0060346]

A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13.

Synonyms:  Native American myopathy,  DOID:0060346,  Native American myopathies