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GTR Home > Conditions/Phenotypes > Myofibrillar myopathy 3

Myofibrillar myopathy 3

Synonyms
Autosomal dominant spheroid body myopathy; Limb-girdle muscular dystrophy, type 1A; Muscular dystrophy, proximal, type 1A; Spheroid body myopathy

Summary

Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by Foroud et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). [from OMIM]

Available tests

78 tests are in the database for this condition.

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Clinical tests (78 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LGMD1, LGMD1A, MFM3, TTID, TTOD, MYOT
    Summary: myotilin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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