Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice

Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice

Autosomal recessive homozygous or compound heterozygous mutations in FKRP result in forms of muscular dystrophy-dystroglycanopathy varying in age of onset, clinical presentation, and disease progression, ranging from the severe Walker-Warburg, type A,5 (MDDGA5), muscle-eye-brain (MDDGB5) with or wit...

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Bibliographic Details
Main Authors: Jason D. Tucker, Pei J. Lu, Xiao Xiao, Qi L. Lu
Format: Article
Language:English
Published: Elsevier 2018-06-01
Series:Molecular Therapy: Nucleic Acids
Subjects:
gene therapy
mutant
FKRP
LGMD2I
pathogenic variant
glycosylation
dystroglycan
Online Access:http://www.sciencedirect.com/science/article/pii/S2162253118300246

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http://www.sciencedirect.com/science/article/pii/S2162253118300246

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