MYL2

Autosomal recessive inheritance

Evidence that infantile-onset myofibrillar myopathy-12 with cardiomyopathy (MFM12) is caused by homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23.

Infantile-onset myofibrillar myopathy-12 with cardiomyopathy (MFM12) is a severe autosomal recessive disorder affecting both skeletal and cardiac muscle tissue that is apparent in the first weeks of life. Affected infants show tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure, usually resulting in death by 6 months of age. Skeletal and cardiac muscle tissues show hypotrophy of type I muscle fibers and evidence of myofibrillar disorganization.