| H00595 | |
| H番号 | H00595 |
| 名称 | 筋原線維性ミオパチー |
| 概要 | 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. |
| カテゴリ | 神経系疾患; 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | 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 |
| 文献 | PMID:20301672 著者 Selcen D, Engel AG タイトル Myofibrillar Myopathy 雑誌 GeneReviews (1993) PMID:17029922 著者 Udd B タイトル Molecular biology of distal muscular dystrophies--sarcomeric proteins on top. 雑誌 Biochim Biophys Acta 1772:145-58 (2007) DOI:10.1016/j.bbadis.2006.08.005 PMID:9697706 (DES) 著者 Goldfarb LG, Park KY, Cervenakova L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC タイトル Missense mutations in desmin associated with familial cardiac and skeletal myopathy. 雑誌 Nat Genet 19:402-3 (1998) DOI:10.1038/1300 PMID:9731540 (CRYAB) 著者 Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, Chateau D, Chapon F, Tome F, Dupret JM, Paulin D, Fardeau M タイトル A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. 雑誌 Nat Genet 20:92-5 (1998) DOI:10.1038/1765 PMID:10958653 (MYOT) 著者 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 タイトル Myotilin is mutated in limb girdle muscular dystrophy 1A. 雑誌 Hum Mol Genet 9:2141-7 (2000) DOI:10.1093/hmg/9.14.2141 PMID:15668942 (LDB3) 著者 Selcen D, Engel AG タイトル Mutations in ZASP define a novel form of muscular dystrophy in humans. 雑誌 Ann Neurol 57:269-76 (2005) DOI:10.1002/ana.20376 PMID:15929027 (FLNC) 著者 Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, Schroder R, Lochmuller H, Himmel M, Koehler K, Furst DO, Huebner A タイトル A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. 雑誌 Am J Hum Genet 77:297-304 (2005) DOI:10.1086/431959 PMID:19085932 (BAG3) 著者 Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, Engel AG タイトル Mutation in BAG3 causes severe dominant childhood muscular dystrophy. 雑誌 Ann Neurol 65:83-9 (2009) DOI:10.1002/ana.21553 PMID:27484770 (KY) 著者 Straussberg R, Schottmann G, Sadeh M, Gill E, Seifert F, Halevy A, Qassem K, Rendu J, van der Ven PF, Stenzel W, Schuelke M タイトル Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. 雑誌 Acta Neuropathol 132:475-8 (2016) DOI:10.1007/s00401-016-1602-9 PMID:27745833 (PYROXD1) 著者 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 タイトル Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. 雑誌 Am J Hum Genet 99:1086-1105 (2016) DOI:10.1016/j.ajhg.2016.09.005 PMID:22577215 (TTN) 著者 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 タイトル Titin mutation segregates with hereditary myopathy with early respiratory failure. 雑誌 Brain 135:1695-713 (2012) DOI:10.1093/brain/aws102 PMID:32779703 (SVIL) 著者 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 タイトル Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. 雑誌 Brain 143:2406-2420 (2020) DOI:10.1093/brain/awaa206 PMID:31852522 (UNC45B) 著者 Dafsari HS, Kocaturk NM, Daimaguler HS, Brunn A, Dotsch J, Weis J, Deckert M, Cirak S タイトル Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy. 雑誌 Acta Neuropathol Commun 7:211 (2019) DOI:10.1186/s40478-019-0869-1 PMID:23365102 (MYL2) 著者 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 タイトル Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. 雑誌 Brain 136:282-93 (2013) DOI:10.1093/brain/aws293 |