OBO ID: DOID:0111335 |
Term Name: | myopathy with extrapyramidal signs | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111335 ) |
OTHER myopathy with extrapyramidal signs PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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