KEGG   DISEASE: Myofibrillar myopathies (MFM)Help
H00595                      Disease                                

Myofibrillar myopathies (MFM), including:
Desminopathy (MFM1);
alpha-B Crystallinopathy (MFM2);
Myotilinopathy (MFM3);
Zaspopathy (MFM4);
Filaminopathy (MFM5);
BAG3-related myofibrillar myopathy
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.
Musculoskeletal disease; Nervous system disease
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00595  Myofibrillar myopathies (MFM)
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G70-G73  Diseases of myoneural junction and muscle
   G71  Primary disorders of muscles
    H00595  Myofibrillar myopathies (MFM)
BRITE hierarchy
Protein processing in endoplasmic reticulum
MAPK signaling pathway
Focal adhesion
(MFM1) DES [HSA:1674] [KO:K07610]
(MFM2) CRYAB [HSA:1410] [KO:K09542]
(MFM3) TTID [HSA:9499] [KO:K19875]
(MFM4) ZASP [HSA:11155] [KO:K19867]
(MFM5) FLNC [HSA:2318] [KO:K04437]
(BAG3-related MFM) BAG3 [HSA:9531] [KO:K09557]
Other DBs
PMID:20301672 (gene, description)
Selcen D, Engel AG
Myofibrillar Myopathy
PMID:17029922 (gene, description)
Udd B
Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.
Biochim Biophys Acta 1772:145-58 (2007)

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