| H00593 | |
| H番号 | H00593 |
| 名称 | 肢帯型筋ジストロフィー |
| 概要 | Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited disorders characterized by progressive muscle weakness that begins from the proximal limb muscles. The disease is not congenital, with the age at onset of symptoms varying from early childhood to late adulthood. The primary distinction is between the autosomal dominant (LGMDD) and the autosomal recessive forms (LGMDR). According to the disease mechanisms, the LGMDs may be grouped as follows: dystrophin-dystroglycan complex defects, membrane defects, enzymatic, sarcomeric, and nuclear lamina. |
| 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 | (LGMDD1) DNAJB6 [HSA:10049] [KO:K09512] (LGMDD2) TNPO3 [HSA:23534] [KO:K15436] (LGMDD3) HNRNPDL [HSA:9987] [KO:K13044] (LGMDD4/R1) CAPN3 [HSA:825] [KO:K08573] (LGMDR2) DYSF [HSA:8291] [KO:K18261] (LGMDR3) SGCA [HSA:6442] [KO:K12565] (LGMDR4) SGCB [HSA:6443] [KO:K12566] (LGMDR5) SGCG [HSA:6445] [KO:K12564] (LGMDR6) SGCD [HSA:6444] [KO:K12563] (LGMDR7) TCAP [HSA:8557] [KO:K19879] (LGMDR8) TRIM32 [HSA:22954] [KO:K10607] (LGMDR9) FKRP [HSA:79147] [KO:K19873] (LGMDR10) TTN [HSA:7273] [KO:K12567] (LGMDR11) POMT1 [HSA:10585] [KO:K00728] (LGMDR12) ANO5 [HSA:203859] [KO:K19480] (LGMDR13) FKTN [HSA:2218] [KO:K19872] (LGMDR14) POMT2 [HSA:29954] [KO:K00728] (LGMDR15) POMGNT1 [HSA:55624] [KO:K09666] (LGMDR16) DAG1 [HSA:1605] [KO:K06265] (LGMDR17) PLEC [HSA:5339] [KO:K10388] (LGMDR18) TRAPPC11 [HSA:60684] [KO:K20308] (LGMDR19) GMPPB [HSA:29925] [KO:K00966] (LGMDR20) CRPPA [HSA:729920] [KO:K21031] (LGMDR21) POGLUT1 [HSA:56983] [KO:K13667] (LGMDR23) LAMA2 [HSA:3908] [KO:K05637] (LGMDR24) POMGNT2 [HSA:84892] [KO:K18207] (LGMDR25) BVES [HSA:11149] [KO:K21108] (LGMDR26) POPDC3 [HSA:64208] [KO:K26207] (LGMDR27) JAG2 [HSA:3714] [KO:K21635] (LGMDR28) HMGCR [HSA:3156] [KO:K00021] (MDRCMTT) LIMS2 [HSA:55679] [KO:K23354] (MRRSDC) TOR1AIP1 [HSA:26092] [KO:K23001] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C70.4 ICD-10: G71.0 MeSH: D049288 OMIM: 603511 608423 609115 618129 253600 253601 608099 604286 253700 601287 601954 254110 607155 608807 609308 611307 611588 613158 613157 613818 613723 615356 615352 616052 617232 618138 618135 616812 618848 616827 620375 619566 617072 |
| 文献 | PMID:21825984 著者 Nigro V, Aurino S, Piluso G タイトル Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches. 雑誌 Curr Opin Neurol 24:429-36 (2011) DOI:10.1097/WCO.0b013e32834aa38d PMID:22334415 (LGMDD1) 著者 Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH タイトル Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. 雑誌 Ann Neurol 71:407-16 (2012) DOI:10.1002/ana.22683 PMID:12913210 (LGMDD2) 著者 Palenzuela L, Andreu AL, Gamez J, Vila MR, Kunimatsu T, Meseguer A, Cervera C, Fernandez Cadenas I, van der Ven PF, Nygaard TG, Bonilla E, Hirano M タイトル A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. 雑誌 Neurology 61:404-6 (2003) DOI:10.1212/01.wnl.0000073984.46546.4f PMID:24647604 (LGMDD3) 著者 Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavacana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M タイトル A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 雑誌 Hum Mol Genet 23:4103-10 (2014) DOI:10.1093/hmg/ddu127 PMID:27259757 (LGMDD4) 著者 Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmuller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M タイトル A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. 雑誌 Brain 139:2154-63 (2016) DOI:10.1093/brain/aww133 PMID:7720071 (LGMDR1) 著者 Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, et al. タイトル Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 雑誌 Cell 81:27-40 (1995) DOI:10.1016/0092-8674(95)90368-2 PMID:9731527 (LGMDR2) 著者 Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K タイトル A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. 雑誌 Nat Genet 20:37-42 (1998) DOI:10.1038/1689 PMID:8069911 (LGMDR3) 著者 Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tome FM, Romero NB, et al. タイトル Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. 雑誌 Cell 78:625-33 (1994) DOI:10.1016/0092-8674(94)90527-4 PMID:7581448 (LGMDR4) 著者 Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, et al. タイトル Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. 雑誌 Nat Genet 11:257-65 (1995) DOI:10.1038/ng1195-257 PMID:7481775 (LGMDR5) 著者 Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E タイトル Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. 雑誌 Science 270:819-22 (1995) DOI:10.1126/science.270.5237.819 PMID:8841194 (LGMDR6) 著者 Nigro V, de Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M タイトル Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. 雑誌 Nat Genet 14:195-8 (1996) DOI:10.1038/ng1096-195 PMID:10655062 (LGMDR7) 著者 Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE タイトル Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. 雑誌 Nat Genet 24:163-6 (2000) DOI:10.1038/72822 PMID:11822024 (LGMDR8) 著者 Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, Wrogemann K タイトル Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. 雑誌 Am J Hum Genet 70:663-72 (2002) DOI:10.1086/339083 PMID:11592034 (LGMDR9) 著者 Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F タイトル Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. 雑誌 Am J Hum Genet 69:1198-209 (2001) DOI:10.1086/324412 PMID:12145747 (LGMDR10) 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:15792865 (LGMDR11) 著者 Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H タイトル An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. 雑誌 Neuromuscul Disord 15:271-5 (2005) DOI:10.1016/j.nmd.2005.01.013 PMID:20096397 (LGMDR12) 著者 Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B タイトル Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 雑誌 Am J Hum Genet 86:213-21 (2010) DOI:10.1016/j.ajhg.2009.12.013 PMID:17044012 (LGMDR13) 著者 Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, Muntoni F タイトル Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. 雑誌 Ann Neurol 60:603-10 (2006) DOI:10.1002/ana.21006 PMID:17878207 (LGMDR14) 著者 Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F タイトル Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 雑誌 Brain 130:2725-35 (2007) DOI:10.1093/brain/awm212 PMID:18195152 (LGMDR15) 著者 Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F タイトル Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. 雑誌 Arch Neurol 65:137-41 (2008) DOI:10.1001/archneurol.2007.2 PMID:21388311 (LGMDR16) 著者 Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltran-Valero de Bernabe D, Gundesli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MB, Accardi A, Talim B, Muntoni F, Topaloglu H, Dincer P, Campbell KP タイトル A dystroglycan mutation associated with limb-girdle muscular dystrophy. 雑誌 N Engl J Med 364:939-46 (2011) DOI:10.1056/NEJMoa1006939 PMID:21109228 (LGMDR17) 著者 Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dincer P タイトル Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. 雑誌 Am J Hum Genet 87:834-41 (2010) DOI:10.1016/j.ajhg.2010.10.017 PMID:23830518 (LGMDR18) 著者 Bogershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nurnberg G, McLeod DR, Thiele H, Waggoner D, Altmuller J, Boycott KM, Schoser B, Nurnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE タイトル Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. 雑誌 Am J Hum Genet 93:181-90 (2013) DOI:10.1016/j.ajhg.2013.05.028 PMID:23768512 (LGMDR19) 著者 Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bonnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ, Lin YY, Muntoni F タイトル Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan. 雑誌 Am J Hum Genet 93:29-41 (2013) DOI:10.1016/j.ajhg.2013.05.009 PMID:23390185 (LGMDR20) 著者 Tasca G, Moro F, Aiello C, Cassandrini D, Fiorillo C, Bertini E, Bruno C, Santorelli FM, Ricci E タイトル Limb-girdle muscular dystrophy with alpha-dystroglycan deficiency and mutations in the ISPD gene. 雑誌 Neurology 80:963-5 (2013) DOI:10.1212/WNL.0b013e3182840cbc PMID:27807076 (LGMDR21) 著者 Servian-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gomez E, Rivas E, Nieto-Gonzalez JL, Rivero MC, Cabrera-Serrano M, Gomez-Sanchez L, Martinez-Lopez JA, Estrada B, Marquez C, Morgado Y, Suarez-Calvet X, Pita G, Bigot A, Gallardo E, Fernandez-Chacon R, Hirano M, Haltiwanger RS, Jafar-Nejad H, Paradas C タイトル A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. 雑誌 EMBO Mol Med 8:1289-1309 (2016) DOI:10.15252/emmm.201505815 PMID:21953594 (LGMDR23) 著者 Gavassini BF, Carboni N, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K, Bello L, Maioli MA, Marrosu G, Ticca AF, Mura M, Marrosu MG, Soraru G, Angelini C, Vissing J, Pegoraro E タイトル Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. 雑誌 Muscle Nerve 44:703-9 (2011) DOI:10.1002/mus.22132 PMID:27066570 (LGMDR24) 著者 Endo Y, Dong M, Noguchi S, Ogawa M, Hayashi YK, Kuru S, Sugiyama K, Nagai S, Ozasa S, Nonaka I, Nishino I タイトル Milder forms of muscular dystrophy associated with POMGNT2 mutations. 雑誌 Neurol Genet 1:e33 (2015) DOI:10.1212/NXG.0000000000000033 PMID:26642364 (LGMDR25) 著者 Schindler RF, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S, Schwerte T, Poon KL, Fang M, Rinne S, Froese A, Nikolaev VO, Grunert C, Muller T, Tasca G, Sarathchandra P, Drago F, Dallapiccola B, Rapezzi C, Arbustini E, Di Raimo FR, Neri M, Selvatici R, Gualandi F, Fattori F, Pietrangelo A, Li W, Jiang H, Xu X, Bertini E, Decher N, Wang J, Brand T, Ferlini A タイトル POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. 雑誌 J Clin Invest 126:239-53 (2016) DOI:10.1172/JCI79562 PMID:31610034 (LGMDR26) 著者 Vissing J, Johnson K, Topf A, Nafissi S, Diaz-Manera J, French VM, Schindler RF, Sarathchandra P, Lokken N, Rinne S, Freund M, Decher N, Muller T, Duno M, Krag T, Brand T, Straub V タイトル POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy. 雑誌 Ann Neurol 86:832-843 (2019) DOI:10.1002/ana.25620 PMID:33861953 (LGMDR27) 著者 Coppens S, Barnard AM, Puusepp S, Pajusalu S, Ounap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Lusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Auge A, Deleuze JF, Meng Y, Topf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bonnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB タイトル A form of muscular dystrophy associated with pathogenic variants in JAG2. 雑誌 Am J Hum Genet 108:840-856 (2021) DOI:10.1016/j.ajhg.2021.03.020 PMID:36745799 (LGMDR28) 著者 Yogev Y, Shorer Z, Koifman A, Wormser O, Drabkin M, Halperin D, Dolgin V, Proskorovski-Ohayon R, Hadar N, Davidov G, Nudelman H, Zarivach R, Shelef I, Perez Y, Birk OS タイトル Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. 雑誌 Proc Natl Acad Sci U S A 120:e2217831120 (2023) DOI:10.1073/pnas.2217831120 PMID:25589244 (MDRCMTT) 著者 Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M, Majewski J, Bulman DE, Boycott KM, Dyment DA タイトル LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. 雑誌 Clin Genet 88:558-64 (2015) DOI:10.1111/cge.12561 PMID:24856141 (MRRSDC) 著者 Kayman-Kurekci G, Talim B, Korkusuz P, Sayar N, Sarioglu T, Oncel I, Sharafi P, Gundesli H, Balci-Hayta B, Purali N, Serdaroglu-Oflazer P, Topaloglu H, Dincer P タイトル Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. 雑誌 Neuromuscul Disord 24:624-33 (2014) DOI:10.1016/j.nmd.2014.04.007 |