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Abnormal muscle fiber alpha dystroglycan

MedGen UID:: 868241
•Concept ID:: C4022633
•: Anatomical Abnormality

Synonym:	Abnormal muscle fibre alpha dystroglycan

HPO:	HP:0030112

Definition

A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal muscle fiber alpha dystroglycan

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Abnormal muscle fiber morphology
        Abnormal muscle fiber protein expression
        Abnormal muscle fiber alpha dystroglycan
        Hypoglycosylation of alpha-dystroglycan
        Reduced muscle fiber alpha dystroglycan

Recent clinical studies

Etiology

Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies.

Ortiz-Cordero C, Bincoletto C, Dhoke NR, Selvaraj S, Magli A, Zhou H, Kim DH, Bang AG, Perlingeiro RCR
Stem Cell Reports 2021 Nov 9;16(11):2752-2767. Epub 2021 Oct 14 doi: 10.1016/j.stemcr.2021.09.009. PMID: 34653404 Free PMC Article

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH
PLoS One 2012;7(8):e43794. Epub 2012 Aug 27 doi: 10.1371/journal.pone.0043794. PMID: 22952766 Free PMC Article

Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease.

Auranen M, Rapola J, Pihko H, Haltia M, Leivo I, Soinila S, Virtanen I, Kalimo H, Anderson LV, Santavuori P, Somer H
Neuromuscul Disord 2000 Jan;10(1):16-23. doi: 10.1016/s0960-8966(99)00066-8. PMID: 10677859

See all (3)

Diagnosis

Multifaceted antibodies development against synthetic α-dystroglycan mucin glycopeptide as promising tools for dystroglycanopathies diagnostic.

Canassa-DeLeo T, Campo VL, Rodrigues LC, Marchiori MF, Fuzo C, Brigido MM, Sandomenico A, Ruvo M, Maranhão AQ, Dias-Baruffi M
Glycoconj J 2020 Feb;37(1):77-93. Epub 2019 Dec 10 doi: 10.1007/s10719-019-09893-z. PMID: 31823246

Cytoskeletal and extracellular matrix alterations in limb girdle muscular dystrophy 2I muscle fibers.

Sabatelli P, Pellegrini C, Faldini C, Merlini L
Neurol India 2012 Sep-Oct;60(5):510-1. doi: 10.4103/0028-3886.103200. PMID: 23135029

See all (2)

Therapy

Chronic Graft Versus Host Myopathies: Noninflammatory, Multi-Tissue Pathology With Glycosylation Disorders.

Pestronk A
J Neuropathol Exp Neurol 2020 Jan 1;79(1):102-112. doi: 10.1093/jnen/nlz111. PMID: 31803918

Expression of dystrophin-associated glycoproteins and utrophin in carriers of Duchenne muscular dystrophy.

Sewry CA, Matsumura K, Campbell KP, Dubowitz V
Neuromuscul Disord 1994 Sep-Nov;4(5-6):401-9. doi: 10.1016/0960-8966(94)90079-5. PMID: 7881285

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Clinical prediction guides

Multifaceted antibodies development against synthetic α-dystroglycan mucin glycopeptide as promising tools for dystroglycanopathies diagnostic.

Conditional Inactivation of Nf1 and Pten in Schwann Cells Results in Abnormal Neuromuscular Junction Maturation.

Li XX, Zhang SJ, Chiu AP, Lo LH, To JC, Cui HN, Rowlands DK, Keng VW
G3 (Bethesda) 2019 Jan 9;9(1):297-303. doi: 10.1534/g3.118.200795. PMID: 30478082 Free PMC Article

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.

Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, Zhou Y, Zon LI, Kunkel LM, Beggs AH
Hum Mol Genet 2011 May 1;20(9):1712-25. Epub 2011 Feb 4 doi: 10.1093/hmg/ddr047. PMID: 21296866 Free PMC Article

High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome.

Morava E, Willemsen MA, Wopereis S, Ter Laak H, Lefeber D, Wevers RA, Cruysberg JR
Eur J Ophthalmol 2006 Jan-Feb;16(1):190-4. doi: 10.1177/112067210601600134. PMID: 16496270

Dystrophin-associated protein abnormalities in dystrophin-deficient muscle fibers from symptomatic and asymptomatic Duchenne/Becker muscular dystrophy carriers.

Di Blasi C, Morandi L, Barresi R, Blasevich F, Cornelio F, Mora M
Acta Neuropathol 1996 Oct;92(4):369-77. doi: 10.1007/s004010050532. PMID: 8891069

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Abnormal muscle fiber alpha dystroglycan

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

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