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GTR Home > Conditions/Phenotypes > Myofibrillar myopathy 3


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]

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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