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DOID:0111335 - myopathy with extrapyramidal signs
Disease Ontology 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.
Synonyms: MPXPS, proximal myopathy with extrapyramidal signs
Echinobase Genes
:
micu1
| MIM:615673 - myopathy with extrapyramidal signs; mpxps |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
myopathy (is_a)