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GTR Home > Conditions/Phenotypes > Myofibrillar myopathy 7

Myofibrillar myopathy 7

Summary

Myofibrillar myopathy-7 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is associated with joint contractures (summary by Straussberg et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MFM7, KY
    Summary: kyphoscoliosis peptidase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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