KEGG DISEASE: Limb-girdle muscular dystrophy

DISEASE: Limb-girdle muscular dystrophy

Entry

H00593                      Disease

Name

Limb-girdle muscular dystrophy

Subgroup

Sarcoglycanopathies [DS:H00565]
Limb-girdle muscular dystrophy 1C [DS:H00567]
Calpainopathy [DS:H00592]
Muscular dystrophy-dystroglycanopathy type C [DS:H01959]
Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT)
Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures (MRRSDC)

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C70  Muscular dystrophy
     H00593  Limb-girdle muscular dystrophy
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06535  Efferocytosis
   H00593  Limb-girdle muscular dystrophy

Pathway

hsa00514

Other types of O-glycan biosynthesis

hsa04512

ECM-receptor interaction

Network

nt06535 Efferocytosis

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]

Other DBs

ICD-11:

8C70.4

ICD-10:

G71.0

MeSH:

D049288

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

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Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (33)   
   OMIM (33)   
Gene (63)   
   KEGG ORTHOLOGY (31)   
   KEGG GENES (32)   
Literature (34)   
   PubMed (34)   
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