Human genes for myopathy with extrapyramidal signs
Myopathy with extrapyramidal signs [DOID:0111335]
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 MICU1 on chromosome 10q22.1.
Synonyms: myopathy with extrapyramidal signs, DOID:0111335, myopathy with extrapyramidal signses, MPXPS, proximal myopathy with extrapyramidal signs ...