infantile-onset myofibrillar myopathy 12 with cardiomyopathy

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 m

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.

Signs and symptoms

• Clonus
• Hepatomegaly
• Generalized hypotonia
• Right atrial enlargement
• Left atrial enlargement
• Generalized muscle weakness
• Myofiber disarray
• Myocardial fibrosis
• Biventricular hypertrophy
• Tremor