| H00595 | |
| H number | H00595 |
| Name | Myofibrillar myopathies |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 | PMID:20301672 AUTHORS Selcen D, Engel AG TITLE Myofibrillar Myopathy JOURNAL GeneReviews (1993) PMID:17029922 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 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 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 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 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 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 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 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 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 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 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 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 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 |