OBO ID: DOID:0080092 |
Term Name: | myofibrillar myopathy 1 | Search Ontology: | |
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Synonyms: |
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Definition: | A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. (2) | ||
References: |
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Ontology: | Human Disease ( DOID:0080092 ) |
OTHER myofibrillar myopathy 1 PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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desmact122aGt/ct122aGt | control | Ramspacher et al., 2015 |
desmasa5/sa5 | control | Ramspacher et al., 2015 |
PHENOTYPE
No data available
CITATIONS (1)
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