| H00593 | |
| H number | H00593 |
| Name | Limb-girdle muscular dystrophy |
| Description | 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. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | 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 |
| Reference | PMID:21825984 AUTHORS Nigro V, Aurino S, Piluso G TITLE Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches. JOURNAL Curr Opin Neurol 24:429-36 (2011) DOI:10.1097/WCO.0b013e32834aa38d PMID:22334415 (LGMDD1) AUTHORS Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH TITLE Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. JOURNAL Ann Neurol 71:407-16 (2012) DOI:10.1002/ana.22683 PMID:12913210 (LGMDD2) AUTHORS 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 TITLE A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. JOURNAL Neurology 61:404-6 (2003) DOI:10.1212/01.wnl.0000073984.46546.4f PMID:24647604 (LGMDD3) AUTHORS 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 TITLE A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). JOURNAL Hum Mol Genet 23:4103-10 (2014) DOI:10.1093/hmg/ddu127 PMID:27259757 (LGMDD4) AUTHORS 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 TITLE A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. JOURNAL Brain 139:2154-63 (2016) DOI:10.1093/brain/aww133 PMID:7720071 (LGMDR1) AUTHORS Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, et al. TITLE Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. JOURNAL Cell 81:27-40 (1995) DOI:10.1016/0092-8674(95)90368-2 PMID:9731527 (LGMDR2) AUTHORS 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 TITLE A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. JOURNAL Nat Genet 20:37-42 (1998) DOI:10.1038/1689 PMID:8069911 (LGMDR3) AUTHORS Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tome FM, Romero NB, et al. TITLE Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. JOURNAL Cell 78:625-33 (1994) DOI:10.1016/0092-8674(94)90527-4 PMID:7581448 (LGMDR4) AUTHORS Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, et al. TITLE Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. JOURNAL Nat Genet 11:257-65 (1995) DOI:10.1038/ng1195-257 PMID:7481775 (LGMDR5) AUTHORS 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 TITLE Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. JOURNAL Science 270:819-22 (1995) DOI:10.1126/science.270.5237.819 PMID:8841194 (LGMDR6) AUTHORS Nigro V, de Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M TITLE Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. JOURNAL Nat Genet 14:195-8 (1996) DOI:10.1038/ng1096-195 PMID:10655062 (LGMDR7) AUTHORS Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE TITLE Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. JOURNAL Nat Genet 24:163-6 (2000) DOI:10.1038/72822 PMID:11822024 (LGMDR8) AUTHORS Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, Wrogemann K TITLE Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. JOURNAL Am J Hum Genet 70:663-72 (2002) DOI:10.1086/339083 PMID:11592034 (LGMDR9) AUTHORS 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 TITLE 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. JOURNAL Am J Hum Genet 69:1198-209 (2001) DOI:10.1086/324412 PMID:12145747 (LGMDR10) AUTHORS Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B TITLE Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. JOURNAL Am J Hum Genet 71:492-500 (2002) DOI:10.1086/342380 PMID:15792865 (LGMDR11) AUTHORS Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H TITLE 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. JOURNAL Neuromuscul Disord 15:271-5 (2005) DOI:10.1016/j.nmd.2005.01.013 PMID:20096397 (LGMDR12) AUTHORS 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 TITLE Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. JOURNAL Am J Hum Genet 86:213-21 (2010) DOI:10.1016/j.ajhg.2009.12.013 PMID:17044012 (LGMDR13) AUTHORS 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 TITLE Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. JOURNAL Ann Neurol 60:603-10 (2006) DOI:10.1002/ana.21006 PMID:17878207 (LGMDR14) AUTHORS 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 TITLE Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. JOURNAL Brain 130:2725-35 (2007) DOI:10.1093/brain/awm212 PMID:18195152 (LGMDR15) AUTHORS 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 TITLE Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. JOURNAL Arch Neurol 65:137-41 (2008) DOI:10.1001/archneurol.2007.2 PMID:21388311 (LGMDR16) AUTHORS 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 TITLE A dystroglycan mutation associated with limb-girdle muscular dystrophy. JOURNAL N Engl J Med 364:939-46 (2011) DOI:10.1056/NEJMoa1006939 PMID:21109228 (LGMDR17) AUTHORS Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dincer P TITLE Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. JOURNAL Am J Hum Genet 87:834-41 (2010) DOI:10.1016/j.ajhg.2010.10.017 PMID:23830518 (LGMDR18) AUTHORS 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 TITLE Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. JOURNAL Am J Hum Genet 93:181-90 (2013) DOI:10.1016/j.ajhg.2013.05.028 PMID:23768512 (LGMDR19) AUTHORS 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 TITLE Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan. JOURNAL Am J Hum Genet 93:29-41 (2013) DOI:10.1016/j.ajhg.2013.05.009 PMID:23390185 (LGMDR20) AUTHORS Tasca G, Moro F, Aiello C, Cassandrini D, Fiorillo C, Bertini E, Bruno C, Santorelli FM, Ricci E TITLE Limb-girdle muscular dystrophy with alpha-dystroglycan deficiency and mutations in the ISPD gene. JOURNAL Neurology 80:963-5 (2013) DOI:10.1212/WNL.0b013e3182840cbc PMID:27807076 (LGMDR21) AUTHORS 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 TITLE A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. JOURNAL EMBO Mol Med 8:1289-1309 (2016) DOI:10.15252/emmm.201505815 PMID:21953594 (LGMDR23) AUTHORS 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 TITLE Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. JOURNAL Muscle Nerve 44:703-9 (2011) DOI:10.1002/mus.22132 PMID:27066570 (LGMDR24) AUTHORS Endo Y, Dong M, Noguchi S, Ogawa M, Hayashi YK, Kuru S, Sugiyama K, Nagai S, Ozasa S, Nonaka I, Nishino I TITLE Milder forms of muscular dystrophy associated with POMGNT2 mutations. JOURNAL Neurol Genet 1:e33 (2015) DOI:10.1212/NXG.0000000000000033 PMID:26642364 (LGMDR25) AUTHORS 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 TITLE POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. JOURNAL J Clin Invest 126:239-53 (2016) DOI:10.1172/JCI79562 PMID:31610034 (LGMDR26) AUTHORS 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 TITLE POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy. JOURNAL Ann Neurol 86:832-843 (2019) DOI:10.1002/ana.25620 PMID:33861953 (LGMDR27) AUTHORS 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 TITLE A form of muscular dystrophy associated with pathogenic variants in JAG2. JOURNAL Am J Hum Genet 108:840-856 (2021) DOI:10.1016/j.ajhg.2021.03.020 PMID:36745799 (LGMDR28) AUTHORS 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 TITLE Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. JOURNAL Proc Natl Acad Sci U S A 120:e2217831120 (2023) DOI:10.1073/pnas.2217831120 PMID:25589244 (MDRCMTT) AUTHORS 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 TITLE LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. JOURNAL Clin Genet 88:558-64 (2015) DOI:10.1111/cge.12561 PMID:24856141 (MRRSDC) AUTHORS 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 TITLE Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. JOURNAL Neuromuscul Disord 24:624-33 (2014) DOI:10.1016/j.nmd.2014.04.007 |