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ID	DOID:0051044
PURL	http://purl.obolibrary.org/obo/DOID_0051044 Copy Copied!
Name	infantile-onset myofibrillar myopathy 12 with cardiomyopathy
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. https://pubmed.ncbi.nlm.nih.gov/23365102/
Xrefs	MIM:619424
Parent Relationships	is_a myofibrillar myopathy is_a autosomal recessive disease