myopathy with extrapyramidal signs

Term ID

DOID:0111335

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. https://www.ncbi.nlm.nih.gov/pubmed/24336167

References

• GARD:12978
• OMIM:615673
• ORDO:401768

Ontology

Human Disease   ( DOID:0111335 )