FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term infantile-onset myofibrillar myopathy 12 with cardiomyopathy ID (Ontology) DOID:0051044 (Human Disease)
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.
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 Genes
 infantile-onset myofibrillar myopathy 12 with cardiomyopathy       3
 for disease ribbon | infantile-onset myofibrillar myopathy 12 with cardiomyopathy       3
 model of | infantile-onset myofibrillar myopathy 12 with cardiomyopathy       3
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
myopathy                         |
 |__myofibrillar myopathy________|
                                 infantile-onset myofibrillar myopathy 12 with cardiomyopathy  3 rec.
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Is a autosomal recessive disease
myofibrillar myopathy
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MIM:619424