Associated Papers
Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.
Lu QL et al.
Journal of Neuromuscular Diseases, 2024
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G et al.
Journal of Neuromuscular Diseases, 2023
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Murphy LB et al.
Annals of Clinical and Translational Neurology, 2020
32342672 (PubMed )
Supplement: ACN3-7-757-s001.pdf
Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice.
Tucker JD et al.
Molecular Therapy. Nucleic Acids, 2018
Mouse models of human ocular disease for translational research.
Krebs MP et al.
Plos One, 2017
Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration.
Awano H et al.
The American Journal of Pathology, 2015
Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April 2013, Charlotte, USA.
Blaeser A et al.
Brain Pathology (zurich, Switzerland), 2014
Mutations alter secretion of fukutin-related protein.
Lu PJ et al.
Biochimica Et Biophysica Acta, 2010
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
Frosk P et al.
Human Mutation, 2005
The phenotype of limb-girdle muscular dystrophy type 2I.
Poppe M et al.
Neurology, 2003
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