Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice

Keyphrases

• Dystroglycanopathy 100%
• FKRP mutations 100%
• Phenotypic Spectrum 100%
• Compound Heterozygous mutation 66%
• Protein-coding Genes 33%
• Disease Course 33%
• Mouse Model 33%
• Paraclinical 33%
• Very Severe 33%
• Early Death 33%
• Multisystem Disease 33%
• Limb-girdle muscular Dystrophy 33%
• Muscle Disease 33%
• Respiratory Insufficiency 33%
• Congenital muscular Dystrophy 33%
• Fukutin-related Protein 33%
• Protein Folding 33%
• Loss of Ambulation 33%

Biochemistry, Genetics and Molecular Biology

• Dystroglycanopathy 100%
• Animal Model 33%
• Mouse Model 33%
• Fukutin-Related Protein 33%
• Protein Folding 33%
• Fukutin Related Protein 33%

Neuroscience

• Muscular Dystrophy 100%
• Muscle Disorder 50%
• Fukutin-Related Protein 50%
• Protein Folding 50%