OBO ID: DOID:0112108 |
Term Name: | myofibrillar myopathy 10 | Search Ontology: | |
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Definition: | A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23. https://pubmed.ncbi.nlm.nih.gov/32779703/ | ||
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Ontology: | Human Disease ( DOID:0112108 ) |
OTHER myofibrillar myopathy 10 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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