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Myofibrillar myopathy 3

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Description

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).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

131

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Genes

External Links

  • OMIM

    609200

  • Orphanet
  • HPO
  • Medgen

    C3714934

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