KEGG   DISEASE: Myofibrillar myopathiesHelp
Entry
H00595                      Disease                                

Name
Myofibrillar myopathies
  Subgroup
Desminopathy (MFM1)
alpha-B Crystallinopathy (MFM2)
Myotilinopathy (MFM3)
Zaspopathy (MFM4)
Filaminopathy (MFM5)
BAG3-related myofibrillar myopathy
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
Nervous system disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00595  Myofibrillar myopathies
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C76  Myofibrillar myopathy
     H00595  Myofibrillar myopathies
BRITE hierarchy
Pathway
hsa04141  Protein processing in endoplasmic reticulum
hsa04010  MAPK signaling pathway
hsa04510  Focal adhesion
Gene
(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]
(MFM6) BAG3 [HSA:9531] [KO:K09557]
(MFM7) KY [HSA:339855]
(MFM8) PYROXD1 [HSA:79912]
Other DBs
ICD-11: 8C76
ICD-10: G71.8
MeSH: C580316 C563319 C563848 C563775 C563718 C537932 C567843
OMIM: 601419 608810 609200 609452 609524 612954 617114 617258
Reference
  Authors
Selcen D, Engel AG
  Title
Myofibrillar Myopathy
  Journal
GeneReviews (1993)
Reference
  Authors
Udd B
  Title
Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.
  Journal
Biochim Biophys Acta 1772:145-58 (2007)
DOI:10.1016/j.bbadis.2006.08.005
Reference
  Authors
Straussberg R, Schottmann G, Sadeh M, Gill E, Seifert F, Halevy A, Qassem K, Rendu J, van der Ven PF, Stenzel W, Schuelke M
  Title
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.
  Journal
Acta Neuropathol 132:475-8 (2016)
DOI:10.1007/s00401-016-1602-9
Reference
  Authors
O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bonnemann CG, Laporte J, Cooper ST
  Title
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
  Journal
Am J Hum Genet 99:1086-1105 (2016)
DOI:10.1016/j.ajhg.2016.09.005

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