Term Name:	myopathy with extrapyramidal signs
Synonyms:	MPXPS, proximal myopathy with extrapyramidal signs
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.
Ontology:	Human Disease [DOID:0111335]   ( DOID:0111335 )