Human genes for spheroid body myopathy
Spheroid body myopathy [DOID:0080091]
A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31.
Synonyms: spheroid body myopathy, DOID:0080091, spheroid body myopathies