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Disease Ontology Browser
infantile-onset myofibrillar myopathy 12 with cardiomyopathy (DOID:0051044)
Alliance: disease page
Alt IDs: OMIM:619424
Definition: A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23.

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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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory
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