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GTR Home > Conditions/Phenotypes > Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy

Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy

Summary

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 (summary by Weterman et al., 2013). For a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMH10, MFM12, MLC-2, MLC-2s/v, MLC-2v, MLC2, MYL2
    Summary: myosin light chain 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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