Details of Disease

General Information of Disease (ID: DISI9Y1Z)

Disease Name Limb-girdle muscular dystrophy
Synonyms Leyden-Mbius muscular dystrophy; limb girdle muscular dystrophy; erb's muscular dystrophy; Leyden-Mobius muscular dystrophy; LGMD; limb-girdle muscular dystrophy
Disease Class 8C70: Muscular dystrophy
Definition
Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.
Disease Hierarchy
DISV66YX: Progressive muscular dystrophy
DISI9Y1Z: Limb-girdle muscular dystrophy
ICD Code
ICD-11
ICD-11: 8C70.4
Disease Identifiers
MONDO ID
MONDO_0016971
MESH ID
D049288
UMLS CUI
C0686353
MedGen ID
151940
HPO ID
HP:0006785
Orphanet ID
263
SNOMED CT ID
240046001

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Ribitol DMCK357 Phase 3 Small molecule [1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 11 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HNRNPA2B1 TT8UPW6 Limited Genetic Variation [2]
CTNS TT1W2ZS moderate Genetic Variation [3]
DMD TTWLFXU moderate Biomarker [4]
DNAJB1 TTPXAWS moderate Genetic Variation [5]
PYGM TTZHY6R moderate Altered Expression [6]
SYVN1 TT8XKYM moderate Genetic Variation [7]
COL6A3 TT5WCAH Strong Biomarker [8]
GNE TT4DP5S Strong Biomarker [9]
SGCA TTS9Q5V Strong Biomarker [10]
SGCB TTEDCQ0 Strong Genetic Variation [11]
SGCG TTSMT9W Strong Biomarker [12]
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⏷ Show the Full List of 11 DTT(s)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC3A1 DTBCKVM moderate Biomarker [13]
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This Disease Is Related to 55 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BVES OT4GT1WC Limited Biomarker [14]
DNAJB6 OTMHIIAN Limited Genetic Variation [15]
LIMS2 OTZ7IIPM Limited Biomarker [16]
POMK OT36HLDO Limited Genetic Variation [17]
PYROXD1 OTPGO23E Limited Genetic Variation [18]
RAPSN OTGMSWDQ Limited Biomarker [19]
TRAPPC11 OTPZYXGA Disputed Genetic Variation [20]
ACTN2 OT9FOLD7 moderate Biomarker [21]
ALMS1 OTW66JKS moderate Genetic Variation [22]
COL6A1 OTYKSCOB moderate Genetic Variation [23]
DCTN1 OT5B51FJ moderate Biomarker [24]
DPM3 OTSB4XO0 moderate Genetic Variation [25]
FBXO40 OTS62YA2 moderate Altered Expression [26]
GMPPB OTJ0CCJ8 moderate Genetic Variation [27]
HNRNPD OT5UO1FA moderate Biomarker [28]
LAMA2 OTFROQWE moderate Genetic Variation [29]
MMD OTB5I4OC moderate Biomarker [30]
MYOF OTRFC3IJ moderate Genetic Variation [31]
OBSL1 OT6M8M3J moderate Genetic Variation [32]
POGLUT1 OTDX7GZD moderate Genetic Variation [33]
RIPOR2 OTXB6LIR moderate Biomarker [34]
SPATA18 OTOEHTHU moderate Biomarker [35]
SYTL2 OTUIOWKL moderate Altered Expression [36]
TBXT OTHCO2F0 moderate Genetic Variation [37]
TRIM72 OTFAFXPC moderate Biomarker [38]
ANO5 OTOW8R6H Strong Genetic Variation [39]
BCAP31 OTKSACR4 Strong Genetic Variation [40]
BEST1 OTWHE1ZC Strong Genetic Variation [41]
CALD1 OTNJKJ6Q Strong Genetic Variation [40]
CAV3 OTWSFDB4 Strong Genetic Variation [42]
CMYA5 OTYV0RME Strong Biomarker [43]
COL6A2 OTQC6PPO Strong Genetic Variation [44]
CRPPA OTC85K8Q Strong Biomarker [45]
DCAF6 OT3EYK1J Strong Biomarker [46]
DES OTI09KBW Strong Genetic Variation [15]
DOK7 OTR2V7HO Strong Biomarker [47]
EIF3K OTGTKVGO Strong Posttranslational Modification [48]
EMD OTR8ZANE Strong Biomarker [49]
FKRP OTMUZ7GH Strong Genetic Variation [50]
FKTN OTQ9GCXL Strong Genetic Variation [51]
FLNC OT3F8J6Y Strong Genetic Variation [52]
HNRNPDL OTB3BFCV Strong Genetic Variation [53]
HPS1 OTKS5I7T Strong Biomarker [54]
LMNA OT3SG7ZR Strong Biomarker [49]
MYOT OTCEW5XW Strong Biomarker [45]
PLEC OTU4XDEG Strong Genetic Variation [55]
POMGNT2 OT0S9Z0J Strong Biomarker [56]
POMT1 OTGQSHL5 Strong Genetic Variation [57]
POMT2 OTO1ZQZX Strong Biomarker [58]
POPDC3 OTN4FJ5J Strong Genetic Variation [59]
TCAP OTQQMJ94 Strong Biomarker [54]
TOR1AIP1 OTTG8MAK Strong Biomarker [60]
TRIM32 OTJOV0PG Strong Biomarker [61]
TTN OT0LZ058 Strong Genetic Variation [62]
TNPO3 OTOT3HH0 Definitive Genetic Variation [63]
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⏷ Show the Full List of 55 DOT(s)

References

1 ClinicalTrials.gov (NCT05775848) A Phase 3 Randomized, Placebo-controlled, Double-blind Study to Evaluate the Efficacy and Safety of BBP-418 (Ribitol) in Patients With Limb Girdle Muscular Dystrophy 2I (LGMD2I). U.S.National Institutes of Health.
2 Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy.Hum Mol Genet. 2016 Mar 1;25(5):936-50. doi: 10.1093/hmg/ddv627. Epub 2016 Jan 6.
3 Novel protein domains and repeats in Drosophila melanogaster: insights into structure, function, and evolution.Genome Res. 2001 Dec;11(12):1996-2008. doi: 10.1101/gr.198701.
4 Prevalence, pathological mechanisms, and genetic basis of limb-girdle muscular dystrophies: A review.J Cell Physiol. 2019 Jun;234(6):7874-7884. doi: 10.1002/jcp.27907. Epub 2018 Dec 7.
5 Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers.J Biol Chem. 2014 Jul 25;289(30):21120-30. doi: 10.1074/jbc.M114.572461.
6 Myophosphorylase deficiency and limb-girdle muscular dystrophy in the same pedigree.Acta Neurol Scand. 1998 Nov;98(5):364-7. doi: 10.1111/j.1600-0404.1998.tb01749.x.
7 Unveiling the degradative route of the V247M -sarcoglycan mutant responsible for LGMD-2D.Hum Mol Genet. 2014 Jul 15;23(14):3746-58. doi: 10.1093/hmg/ddu088. Epub 2014 Feb 23.
8 Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.Hum Genomics. 2018 Jul 3;12(1):34. doi: 10.1186/s40246-018-0167-1.
9 Two recurrent mutations are associated with GNE myopathy in the North of Britain.J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1359-65. doi: 10.1136/jnnp-2013-306314. Epub 2014 Apr 2.
10 Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy.J Clin Neurosci. 2020 Feb;72:471-473. doi: 10.1016/j.jocn.2019.12.003. Epub 2019 Dec 10.
11 Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report.Iran J Public Health. 2018 Dec;47(12):1953-1957.
12 Expression, purification, and structural analysis of the full-length human integral membrane protein -sarcoglycan.Protein Expr Purif. 2020 Mar;167:105525. doi: 10.1016/j.pep.2019.105525. Epub 2019 Nov 1.
13 Angiotensin II receptor blocker losartan exacerbates muscle damage and exhibits weak blood pressure-lowering activity in a dysferlin-null model of Limb-Girdle muscular dystrophy type 2B.PLoS One. 2019 Aug 12;14(8):e0220903. doi: 10.1371/journal.pone.0220903. eCollection 2019.
14 POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. J Clin Invest. 2016 Jan;126(1):239-53. doi: 10.1172/JCI79562. Epub 2015 Dec 7.
15 Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.Eur J Med Genet. 2020 Feb;63(2):103655. doi: 10.1016/j.ejmg.2019.04.012. Epub 2019 Apr 27.
16 LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clin Genet. 2015 Dec;88(6):558-64. doi: 10.1111/cge.12561. Epub 2015 Feb 26.
17 Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.Am J Med Genet A. 2020 Mar;182(3):536-542. doi: 10.1002/ajmg.a.61453. Epub 2019 Dec 12.
18 Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.J Neurol. 2019 Feb;266(2):353-360. doi: 10.1007/s00415-018-9137-8. Epub 2018 Dec 4.
19 Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.Lancet Neurol. 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7.
20 TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of -dystroglycan and muscular dystrophy.Skelet Muscle. 2018 May 31;8(1):17. doi: 10.1186/s13395-018-0163-0.
21 Telethonin and other new proteins of the Z-disc of skeletal muscle.IUBMB Life. 2001 May;51(5):275-82. doi: 10.1080/152165401317190761.
22 Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.Hum Mutat. 2015 Sep;36(9):836-41. doi: 10.1002/humu.22822. Epub 2015 Jul 14.
23 Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine.Ann Neurol. 2010 Feb;67(2):201-8. doi: 10.1002/ana.21846.
24 The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy (LGMD2B).Biochim Biophys Acta. 1998 Nov 8;1442(2-3):432-6. doi: 10.1016/s0167-4781(98)00195-x.
25 Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.Neuromuscul Disord. 2019 Jul;29(7):497-502. doi: 10.1016/j.nmd.2019.05.004. Epub 2019 May 9.
26 FBXO40, a gene encoding a novel muscle-specific F-box protein, is upregulated in denervation-related muscle atrophy.Gene. 2007 Dec 1;404(1-2):53-60. doi: 10.1016/j.gene.2007.08.020. Epub 2007 Sep 7.
27 Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.Neuromuscul Disord. 2017 Jun;27(6):557-564. doi: 10.1016/j.nmd.2017.03.004. Epub 2017 Mar 10.
28 Muscle development and regeneration controlled by AUF1-mediated stage-specific degradation of fate-determining checkpoint mRNAs.Proc Natl Acad Sci U S A. 2019 Jun 4;116(23):11285-11290. doi: 10.1073/pnas.1901165116. Epub 2019 May 21.
29 Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations.Neuromuscul Disord. 2017 Feb;27(2):170-174. doi: 10.1016/j.nmd.2016.10.009. Epub 2016 Nov 3.
30 Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.Neuromuscul Disord. 2014 Dec;24(12):1097-102. doi: 10.1016/j.nmd.2014.07.004. Epub 2014 Aug 1.
31 Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.Front Genet. 2019 Jun 26;10:608. doi: 10.3389/fgene.2019.00608. eCollection 2019.
32 Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.J Cell Sci. 2008 Jun 1;121(11):1841-51. doi: 10.1242/jcs.028019. Epub 2008 May 13.
33 Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).Stem Cell Res. 2017 Oct;24:102-105. doi: 10.1016/j.scr.2017.08.020. Epub 2017 Sep 1.
34 Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation.FASEB J. 2014 Jul;28(7):2955-69. doi: 10.1096/fj.13-246470. Epub 2014 Mar 31.
35 Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.Hum Mutat. 2005 Sep;26(3):279-80. doi: 10.1002/humu.9357.
36 Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.Am J Pathol. 2008 Nov;173(5):1476-87. doi: 10.2353/ajpath.2008.080098. Epub 2008 Oct 2.
37 Interaction of synthetic peptides corresponding to the scaffolding domain of Caveolin-3 with model membranes.Biopolymers. 2006;84(6):615-24. doi: 10.1002/bip.20595.
38 Treatment with Recombinant Human MG53 Protein Increases Membrane Integrity in a Mouse Model of Limb Girdle Muscular Dystrophy 2B.Mol Ther. 2017 Oct 4;25(10):2360-2371. doi: 10.1016/j.ymthe.2017.06.025. Epub 2017 Jul 3.
39 ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.Sci Rep. 2019 Aug 8;9(1):11533. doi: 10.1038/s41598-019-47849-3.
40 Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.Am J Hum Genet. 1997 Oct;61(4):909-17. doi: 10.1086/514896.
41 Value of muscle enzyme measurement in evaluating different neuromuscular diseases.Clin Chim Acta. 2012 Feb 18;413(3-4):520-4. doi: 10.1016/j.cca.2011.11.016. Epub 2011 Nov 25.
42 Mutation in the caveolin-3 gene causes asymmetrical distal myopathy.Neuropathology. 2016 Oct;36(5):485-489. doi: 10.1111/neup.12297. Epub 2016 Mar 7.
43 Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.J Biol Chem. 2010 Sep 24;285(39):30304-15. doi: 10.1074/jbc.M110.108720. Epub 2010 Jul 15.
44 A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.J Neurol. 2019 Jul;266(7):1649-1654. doi: 10.1007/s00415-019-09307-y. Epub 2019 Apr 8.
45 Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.Ann Hum Genet. 2019 Sep;83(5):331-347. doi: 10.1111/ahg.12319. Epub 2019 May 7.
46 Deficiency of nuclear receptor interaction protein leads to cardiomyopathy by disrupting sarcomere structure and mitochondrial respiration.J Mol Cell Cardiol. 2019 Dec;137:9-24. doi: 10.1016/j.yjmcc.2019.09.009. Epub 2019 Oct 17.
47 Germline mutation in DOK7 associated with fetal akinesia deformation sequence. J Med Genet. 2009 May;46(5):338-40. doi: 10.1136/jmg.2008.065425. Epub 2009 Mar 3.
48 Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.J Med Genet. 2005 Mar;42(3):214-20. doi: 10.1136/jmg.2004.026112.
49 Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice.PLoS One. 2019 Aug 20;14(8):e0221512. doi: 10.1371/journal.pone.0221512. eCollection 2019.
50 Demembranated skeletal and cardiac fibers produce less force with altered cross-bridge kinetics in a mouse model for limb-girdle muscular dystrophy 2i.Am J Physiol Cell Physiol. 2019 Aug 1;317(2):C226-C234. doi: 10.1152/ajpcell.00524.2018. Epub 2019 May 15.
51 A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy.Neuromuscul Disord. 2013 Jul;23(7):562-7. doi: 10.1016/j.nmd.2013.04.006. Epub 2013 Jun 6.
52 Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.Hum Mol Genet. 2003 Jan 15;12(2):189-203. doi: 10.1093/hmg/ddg020.
53 Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.J Neurol. 2019 Feb;266(2):498-506. doi: 10.1007/s00415-018-9165-4. Epub 2019 Jan 2.
54 Precise therapeutic gene correction by a simple nuclease-induced double-stranded break.Nature. 2019 Apr;568(7753):561-565. doi: 10.1038/s41586-019-1076-8. Epub 2019 Apr 3.
55 Novel compound heterozygous PLEC mutations lead to earlyonset limbgirdle muscular dystrophy 2Q.Mol Med Rep. 2017 May;15(5):2760-2764. doi: 10.3892/mmr.2017.6309. Epub 2017 Mar 9.
56 Milder forms of muscular dystrophy associated with POMGNT2 mutations.Neurol Genet. 2015 Dec 10;1(4):e33. doi: 10.1212/NXG.0000000000000033. eCollection 2015 Dec.
57 Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.J Hum Genet. 2016 Aug;61(8):753-9. doi: 10.1038/jhg.2016.42. Epub 2016 May 19.
58 Limb girdle muscular dystrophy due to mutations in POMT2.J Neurol Neurosurg Psychiatry. 2018 May;89(5):506-512. doi: 10.1136/jnnp-2017-317018. Epub 2017 Nov 24.
59 POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy. Ann Neurol. 2019 Dec;86(6):832-843. doi: 10.1002/ana.25620. Epub 2019 Oct 28.
60 Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.Clin Imaging. 2019 Nov-Dec;58:108-113. doi: 10.1016/j.clinimag.2019.06.010. Epub 2019 Jun 21.
61 Analysis of the Zn-Binding Domains of TRIM32, the E3 Ubiquitin Ligase Mutated in Limb Girdle Muscular Dystrophy 2H.Cells. 2019 Mar 16;8(3):254. doi: 10.3390/cells8030254.
62 Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.BMC Med Genet. 2019 Dec 12;20(1):195. doi: 10.1186/s12881-019-0929-1.
63 The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection.PLoS Pathog. 2019 Aug 29;15(8):e1007958. doi: 10.1371/journal.ppat.1007958. eCollection 2019 Aug.