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GTR Home > Conditions/Phenotypes > Myofibrillar myopathy 4

Myofibrillar myopathy 4

Synonyms
Myofibrillar myopathy, ZASP-related; Zaspopathy; Zaspopathy (type)

Summary

Myofibrillar myopathy-4 (MFM4) is an autosomal dominant disorder characterized by adult-onset distal muscle weakness primarily affecting the lower limbs at onset. Affected individuals usually present with gait difficulties in their forties, followed by slow progression with eventual involvement of the hands and proximal muscles of the lower limbs. Rare patients may develop cardiomyopathy. Skeletal muscle biopsy shows myopathic changes with myofibrillar changes (Selcen and Engel, 2005; Griggs et al., 2007). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). [from OMIM]

Available tests

73 tests are in the database for this condition.

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Clinical tests (73 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1C, CMH24, CMPD3, CYPHER, LDB3Z1, LDB3Z4, LVNC3, MFM4, ORACLE, PDLIM6, ZASP, LDB3
    Summary: LIM domain binding 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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