Term Name: | infantile-onset myofibrillar myopathy 12 with cardiomyopathy |
---|---|
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. |
Ontology: | Human Disease [DOID:0051044] ( DOID:0051044 ) |