Neuromuscular HOMEepAGE
neuromuscular.wustl.edu
/
A–Z

Dystroglycans and Other proteins associated with the Dystrophin-Sarcoglycan complex

Autosomal RecessiveMuscular DystrophyOMIM 128239
W
View full entry on WUSTL Neuromuscular
musdist/dag2.htm#Dystroglycans and Other proteins associated with the Dystrop

Overview

From WUSTL Neuromuscular

Glycosylation pathways α & β Dystroglycans Encoded by a single gene β Dystroglycan formed by cleavage of α Dystroglycan Membrane-spanning complex: Forms linkage between cytoskeleton & extracellular matrix Links dystrophin�glycoprotein complex to basal lamina Mouse knockouts: Dystroglycan General: Lethal in embryonic development Gross developmental abnormalities Disruption of Reichert membrane, an extra-embryonic basement membrane Abnormal localization of laminin & collagen IV Selective depletion of dystroglycan in muscle: Progressive myopathy; Abnormal neuromuscular junctions α-Dystroglycan pr

OMIM Entries

OMIM #128239

Related Conditions

Shared genes
Molecular Pathology: Immunohistochemistry for Inherited Myopathies
DGAPP

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.