| Metadata | |
|---|---|
| ID | DOID:0051044 |
| 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 | |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has location some skeletal muscle tissue existence starts during some Infantile onset disease has location some cardiac muscle tissue has material basis in some autosomal recessive inheritance |