Details of Disease

General Information of Disease (ID: DISWWCL7)

Disease Name Autosomal recessive limb-girdle muscular dystrophy type 2B
Synonyms
muscular dystrophy, limb-girdle, type 2B; muscular dystrophy, limb-girdle, type 3; limb-girdle muscular dystrophy, type 2B; LGMD3; muscular dystrophy, limb-girdle, autosomal recessive 2; limb-girdle muscular dystrophy due to dysferlin deficiency; limb-girdle muscular dystrophy type 2B; limb-girdle muscular dystrophy type 3; DYSF autosomal recessive limb-girdle muscular dystrophy; autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF; LGMD2B
Definition
Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.
Disease Hierarchy
DIS59VEJ: Qualitative or quantitative defects of dysferlin
DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
DISWWCL7: Autosomal recessive limb-girdle muscular dystrophy type 2B
Disease Identifiers
MONDO ID
MONDO_0009676
MESH ID
C535899
UMLS CUI
C1850889
OMIM ID
253601
MedGen ID
338149
Orphanet ID
268
SNOMED CT ID
718179003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DYSF TTA7MXQ Strong Autosomal recessive [1]
SGCB TTEDCQ0 Strong Biomarker [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC3A1 DTBCKVM moderate Biomarker [3]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CAPN3 OTCHG3YK moderate Biomarker [4]
DCTN1 OT5B51FJ moderate Biomarker [5]
TRIM72 OTFAFXPC moderate Biomarker [6]
DYSF OTNSKJU0 Strong Autosomal recessive [1]
MYOF OTRFC3IJ Strong Biomarker [7]
PARVB OT9OGVWX Strong Biomarker [8]
SLMAP OTHW3DVC Strong Genetic Variation [9]
TCAP OTQQMJ94 Strong Genetic Variation [10]
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⏷ Show the Full List of 8 DOT(s)

References

1 Dysferlinopathy. 2004 Feb 5 [updated 2021 May 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2 Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.Am J Med Genet. 1999 Feb 19;82(5):392-8. doi: 10.1002/(sici)1096-8628(19990219)82:5<392::aid-ajmg7>3.0.co;2-0.
3 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.
4 MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B.Cell Biochem Funct. 2016 Aug;34(6):414-22. doi: 10.1002/cbf.3202.
5 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.
6 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.
7 Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b.J Mol Biol. 2008 Jun 20;379(5):981-90. doi: 10.1016/j.jmb.2008.04.046. Epub 2008 Apr 26.
8 Dysferlin interacts with affixin (beta-parvin) at the sarcolemma.J Neuropathol Exp Neurol. 2005 Apr;64(4):334-40. doi: 10.1093/jnen/64.4.334.
9 Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.J Hum Genet. 2010 Aug;55(8):546-9. doi: 10.1038/jhg.2010.60. Epub 2010 Jun 10.
10 Dysferlin protein analysis in limb-girdle muscular dystrophies.J Mol Neurosci. 2001 Aug;17(1):71-80. doi: 10.1385/JMN:17:1:71.