| Entry |
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| Name |
Myofibrillar myopathies (MFM), including:
Desminopathy (MFM1);
alpha-B Crystallinopathy (MFM2);
Myotilinopathy (MFM3);
Zaspopathy (MFM4);
Filaminopathy (MFM5);
Bag3opathy
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| Description |
Myofibrillar myopathy (MFM) is a group of genetically distinct disorders linked by common morphologic features observed on muscle histology. MFM is characterized by slowly progressive weakness that can involve both proximal and distal muscles. Distal muscle weakness is more pronounced than proximal weakness. All disease proteins identified to date are involved in maintaining the structural integrity of the Z-disk. The pathology includes accumulations of these proteins irrespective of primary gene defect, suggesting that these share molecular pathways involved in actin dynamics organized by the Z-disk. Besides accumulations of these proteins, congophilic amyloid products of myofibrillar degradation and ectopic aggregation of dystrophin and gelsolin appear in abnormal myofibers.
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| Category |
Musculoskeletal disease; Nervous system disease
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| Pathway |
| Protein processing in endoplasmic reticulum | | MAPK signaling pathway | | Focal adhesion |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Selcen D, Engel AG |
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| Title |
Myofibrillar Myopathy |
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| Journal |
(1993) |
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| Reference |
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| Authors |
Udd B |
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| Title |
Molecular biology of distal muscular dystrophies--sarcomeric proteins on top. |
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| Journal |
Biochim Biophys Acta 1772:145-58 (2007) |
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