OBO ID: DOID:0111335
Term Name: myopathy with extrapyramidal signs Search Ontology:
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:
OTHER myopathy with extrapyramidal signs PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MICU1 Myopathy with extrapyramidal signs 615673
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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