myopathy with extrapyramidal signs (DOID:0111335)
Alliance: disease page
Synonyms: MPXPS; proximal myopathy with extrapyramidal signs
Alt IDs: OMIM:615673, ORDO:401768
Definition: A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1.