| H00594 | |
| H番号 | H00594 |
| 名称 | 遠位型ミオパチー |
| 概要 | Distal myopathies (MPD) are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical presentation is characterized by progressive muscular weakness and atrophy beginning in the hands, forearm, lower legs or feet. Currently almost 20 different entities of distal muscular dystrophies have been genetically determined. Half of the genes have been associated with distal phenotypes only, whereas the other genes can manifest also with other than distal phenotypes. Most of the genes code for structural and functional components of the sarcomere. The genes responsible for the pathologically defined category of myofibrillar myopathy are frequently display a distal phenotype. |
| 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 | (MMD1,DMAT) DYSF [HSA:8291] [KO:K18261] (MMD3) ANO5 [HSA:203859] [KO:K19480] (NM) GNE [HSA:10020] [KO:K12409] (DMRV) SQSTM1 [HSA:8878] [KO:K14381] (WDM) TIA1 [HSA:7072] [KO:K13201] (TMD) TTN [HSA:7273] [KO:K12567] (MPD1) MYH7 [HSA:4625] [KO:K17751] (MPD4) FLNC [HSA:2318] [KO:K04437] (MPD5) ADSS1 [HSA:122622] [KO:K01939] (MPD6) ACTN2 [HSA:88] [KO:K21073] (MPD7) SMPX [HSA:23676] [KO:K24209] (MPDT) CAV3 [HSA:859] [KO:K12959] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | For myofibrillar myopathies, see H00595. |
| リンク | ICD-11: 8C75 ICD-10: G71.0 G71.8 MeSH: D049310 OMIM: 254130 606768 613319 605820 617158 604454 600334 160500 614065 617030 618655 301075 614321 |
| 文献 | PMID:20225017 著者 Udd B タイトル Genetics and pathogenesis of distal muscular dystrophies. 雑誌 Adv Exp Med Biol 652:23-38 (2009) DOI:10.1007/978-90-481-2813-6_3 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:18974558 著者 Malicdan MC, Nonaka I タイトル Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles. 雑誌 Neurol India 56:314-24 (2008) DOI:10.4103/0028-3886.43450 PMID:9731526 (MMD1 DMAT) 著者 Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr タイトル Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. 雑誌 Nat Genet 20:31-6 (1998) DOI:10.1038/1682 PMID:17132147 (MMD3) 著者 Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R タイトル Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. 雑誌 Traffic 8:77-88 (2007) DOI:10.1111/j.1600-0854.2006.00505.x PMID:11528398 (NM) 著者 Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S タイトル The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. 雑誌 Nat Genet 29:83-7 (2001) DOI:10.1038/ng718 PMID:26208961 (DMRV) 著者 Bucelli RC, Arhzaouy K, Pestronk A, Pittman SK, Rojas L, Sue CM, Evila A, Hackman P, Udd B, Harms MB, Weihl CC タイトル SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. 雑誌 Neurology 85:665-74 (2015) DOI:10.1212/WNL.0000000000001864 PMID:23401021 (WDM) 著者 Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evila A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Ahlberg G, Edstrom L, Udd B タイトル Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. 雑誌 Ann Neurol 73:500-9 (2013) DOI:10.1002/ana.23831 PMID:12145747 (TMD) 著者 Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B タイトル Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 雑誌 Am J Hum Genet 71:492-500 (2002) DOI:10.1086/342380 PMID:15322983 (MPD1) 著者 Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG タイトル Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 雑誌 Am J Hum Genet 75:703-8 (2004) DOI:10.1086/424760 PMID:21620354 (MPD4) 著者 Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schoffler W, van der Ven PFM, Furst DO, Song J, Djinovic-Carugo K, Penttila S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG タイトル Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. 雑誌 Am J Hum Genet 88:729-740 (2011) DOI:10.1016/j.ajhg.2011.04.021 PMID:26506222 (MPD5) 著者 Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO タイトル ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. 雑誌 Ann Neurol 79:231-43 (2016) DOI:10.1002/ana.24550 PMID:30900782 (MPD6) 著者 Savarese M, Palmio J, Poza JJ, Weinberg J, Olive M, Cobo AM, Vihola A, Jonson PH, Sarparanta J, Garcia-Bragado F, Urtizberea JA, Hackman P, Udd B タイトル Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations. 雑誌 Ann Neurol 85:899-906 (2019) DOI:10.1002/ana.25470 PMID:33974137 (MPD7) 著者 Johari M, Sarparanta J, Vihola A, Jonson PH, Savarese M, Jokela M, Torella A, Piluso G, Said E, Vella N, Cauchi M, Magot A, Magri F, Mauri E, Kornblum C, Reimann J, Stojkovic T, Romero NB, Luque H, Huovinen S, Lahermo P, Donner K, Comi GP, Nigro V, Hackman P, Udd B タイトル Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. 雑誌 Acta Neuropathol 142:375-393 (2021) DOI:10.1007/s00401-021-02319-x PMID:15580566 (MPDT) 著者 Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C タイトル Molecular and muscle pathology in a series of caveolinopathy patients. 雑誌 Hum Mutat 25:82-9 (2005) DOI:10.1002/humu.20119 |