KEGG   DISEASE: H00595Help
Entry
H00595                      Disease                                

Name
Myofibrillar myopathies (MFM), including:
Desminopathy (MFM1);
alpha-B Crystallinopathy (MFM2);
Myotilinopathy (MFM3);
Zaspopathy (MFM4);
Filaminopathy (MFM5);
Bag3opathy
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.
Category
Musculoskeletal disease; Nervous system disease
BRITE hierarchy
Pathway
Protein processing in endoplasmic reticulum
MAPK signaling pathway
Focal adhesion
Gene
(MFM1) DES [HSA:1674] [KO:K07610]
(MFM2) CRYAB [HSA:1410] [KO:K09542]
(MFM3) TTID [HSA:9499]
(MFM4) ZASP [HSA:11155]
(MFM5) FLNC [HSA:2318] [KO:K04437]
(BAG3-related MFM) BAG3
Other DBs
Reference
PMID:20301672 (gene, description)
  Authors
Selcen D, Engel AG
  Title
Myofibrillar Myopathy
  Journal
(1993)
Reference
PMID:17029922 (gene, description)
  Authors
Udd B
  Title
Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.
  Journal
Biochim Biophys Acta 1772:145-58 (2007)

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