KEGG   DISEASE: Myofibrillar myopathies
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
Related
pathway
hsa04510  Focal adhesion
hsa04010  MAPK signaling pathway
hsa04141  Protein processing in endoplasmic reticulum
Gene
(MFM1) DES [HSA:1674] [KO:K07610]
(MFM2) CRYAB [HSA:1410] [KO:K09542]
(MFM3) MYOT [HSA:9499] [KO:K19875]
(MFM4) LDB3 [HSA:11155] [KO:K19867]
(MFM5) FLNC [HSA:2318] [KO:K04437]
(MFM6) BAG3 [HSA:9531] [KO:K09557]
(MFM7) KY [HSA:339855] [KO:K24456]
(MFM8) PYROXD1 [HSA:79912] [KO:K24426]
(MFM9) TTN [HSA:7273] [KO:K12567]
(MFM10) SVIL [HSA:6840] [KO:K10369]
(MFM11) UNC45B [HSA:146862] [KO:K21991]
(MFM12) MYL2 [HSA:4633] [KO:K10351]
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 619040 619178 603689 619424
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
PMID:9697706 (DES)
  Authors
Goldfarb LG, Park KY, Cervenakova L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC
  Title
Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
  Journal
Nat Genet 19:402-3 (1998)
DOI:10.1038/1300
Reference
PMID:9731540 (CRYAB)
  Authors
Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, Chateau D, Chapon F, Tome F, Dupret JM, Paulin D, Fardeau M
  Title
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
  Journal
Nat Genet 20:92-5 (1998)
DOI:10.1038/1765
Reference
PMID:10958653 (MYOT)
  Authors
Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC
  Title
Myotilin is mutated in limb girdle muscular dystrophy 1A.
  Journal
Hum Mol Genet 9:2141-7 (2000)
DOI:10.1093/hmg/9.14.2141
Reference
PMID:15668942 (LDB3)
  Authors
Selcen D, Engel AG
  Title
Mutations in ZASP define a novel form of muscular dystrophy in humans.
  Journal
Ann Neurol 57:269-76 (2005)
DOI:10.1002/ana.20376
Reference
PMID:15929027 (FLNC)
  Authors
Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, Schroder R, Lochmuller H, Himmel M, Koehler K, Furst DO, Huebner A
  Title
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.
  Journal
Am J Hum Genet 77:297-304 (2005)
DOI:10.1086/431959
Reference
PMID:19085932 (BAG3)
  Authors
Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, Engel AG
  Title
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
  Journal
Ann Neurol 65:83-9 (2009)
DOI:10.1002/ana.21553
Reference
PMID:27484770 (KY)
  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
PMID:27745833 (PYROXD1)
  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
Reference
PMID:22577215 (TTN)
  Authors
Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evila A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF
  Title
Titin mutation segregates with hereditary myopathy with early respiratory failure.
  Journal
Brain 135:1695-713 (2012)
DOI:10.1093/brain/aws102
Reference
PMID:32779703 (SVIL)
  Authors
Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, Gotzl R, Luna EJ, Lochmuller H, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C
  Title
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
  Journal
Brain 143:2406-2420 (2020)
DOI:10.1093/brain/awaa206
Reference
PMID:31852522 (UNC45B)
  Authors
Dafsari HS, Kocaturk NM, Daimaguler HS, Brunn A, Dotsch J, Weis J, Deckert M, Cirak S
  Title
Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy.
  Journal
Acta Neuropathol Commun 7:211 (2019)
DOI:10.1186/s40478-019-0869-1
Reference
PMID:23365102 (MYL2)
  Authors
Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YE, Backx AP, Nurnberg G, Nurnberg P, Baas F
  Title
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
  Journal
Brain 136:282-93 (2013)
DOI:10.1093/brain/aws293
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