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 )

Relationships
is a type of: autosomal recessive disease myofibrillar myopathy