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Human Disease

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
Ontology
Human Disease   ( DOID:0111335 )
Relationships
is a type of
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Genes Involved
Zebrafish Models