obsolete spheroid body myopathy Disease Ontology Browser

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Disease Ontology Browser

obsolete spheroid body myopathy (DOID:0080091)
Alliance: disease page
Definition: A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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