infantile-onset myofibrillar myopathy 12 with cardiomyopathy

Term ID

DOID:0051044

Synonyms

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/

References

• MIM:619424

Ontology

Human Disease   ( DOID:0051044 )