Myofibrillar myopathy, desmin-related

Common Name(s)

Myofibrillar myopathy, desmin-related

Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB; {123590}), dystrophin ({300377}), and myotilin (TTID; {604103}). Genetic Heterogeneity of Myofibrillar Myopathy Other forms of MFM include alpha-B crystallinopathy ({608810}), caused by mutation in the CRYAB gene; myotilinopathy ({609200}) and spheroid body myopathy ({182920}), both caused by mutation in the myotilin gene; ZASP-related MFM ({609452}), caused by mutation in the ZASP gene (LDB3; {605906}); FLNC-related MFM ({609524}), caused by mutation in the FLNC gene ({102565}); and BAG3-related MFM ({612954}), caused by mutation in the BAG3 gene ({603883}). 'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome ({602771}), caused by mutation in the SEPN1 gene ({606210}), is another desmin-related myopathy. {12:Goebel (1995)} provided a review of desmin-related myopathy.
 

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Following organizations serve the condition "Myofibrillar myopathy, desmin-related" for support, advocacy or research.

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Scientific Literature

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