" /> Myopathy, spheroid body - CISMeF





Preferred Label : Myopathy, spheroid body;

Obsolete resource : true;

Moved to : 609200;

Type : Phenotype, molecular basis known;

Description : Spheroid body myopathy is a form of myofibrillar myopathy (MFM). 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 (Foroud et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myotilin gene (TTID, 604103.0006);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : 182920;

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30/07/2025


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